https://genomes.news Genomics news, traced to the original source. en https://genomes.news/story/rotifer-study-links-maternal-age-effects-to-epigenetics-818a4f06e3aa/ https://genomes.news/story/rotifer-study-links-maternal-age-effects-to-epigenetics-818a4f06e3aa/ Wed, 19 Aug 2026 23:44:38 GMT Researchers at the Marine Biological Laboratory studied maternal age effects in rotifers, tiny aquatic animals. Postdoctoral scientist Alyssa Liguori found that in two genotypes of the same rotifer species, the effects did not worsen across generations but could reverse within a single generation, suggesting they are not caused by accumulated DNA damage. The lab is now investigating whether histone modifications, an epigenetic mechanism, underlie the observed effects. Source: https://www.mbl.edu/news/molecular-memory-how-mothers-age-echoes-her-offsprings-cells https://genomes.news/story/dongguk-team-builds-electromagnetic-gene-expression-switch-b0305fa03198/ https://genomes.news/story/dongguk-team-builds-electromagnetic-gene-expression-switch-b0305fa03198/ Mon, 17 Aug 2026 23:40:04 GMT Researchers led by Professor Jongpil Kim and doctoral student Yerim Hwang at the Institute for Stem Cells and Regenerative Medicine, Dongguk University, Seoul, developed an electromagnetic field-responsive gene switch. The system was designed to allow reversible, non-invasive control over when and where a gene is expressed, addressing limits of drug-, light-, heat-, and ultrasound-based switches. The team described the tool as offering more precise temporal and spatial control with fewer adverse effects than prior approaches. Source: https://www.dongguk.edu/eng/main https://genomes.news/story/engineered-bacteria-bioleach-olivine-and-store-carbon-as-oxalate-32154d73a0cb/ https://genomes.news/story/engineered-bacteria-bioleach-olivine-and-store-carbon-as-oxalate-32154d73a0cb/ Fri, 14 Aug 2026 21:40:01 GMT Researchers used a genetically engineered strain of Gluconobacter oxydans (B58, deltapstS, P112:mgdh) to bioleach olivine and enstatite rock at 30 degrees Celsius, as reported in Scientific Reports. Direct contact between the bacteria and mineral improved iron oxidation and leaching over a cell-free biolixiviant, and the bacteria produced oxalic acid that formed solid magnesium oxalate. Mass balance calculations showed the strain leached up to 75 percent of magnesium from the starting rock, but only 11 percent of that leached magnesium converted to magnesium oxalate after 15 days. Source: https://www.nature.com/articles/s41598-026-63817-0 https://genomes.news/story/screen-finds-rna-elements-that-stabilize-modified-mrna-ade069157bd2/ https://genomes.news/story/screen-finds-rna-elements-that-stabilize-modified-mrna-ade069157bd2/ Fri, 14 Aug 2026 17:20:04 GMT Researchers screened 196,277 viral sequences and identified eleven RNA elements that enhance the stability and translation of base-modified mRNA, published in Nature Biotechnology. The elements recruit the protein TENT4 to extend the poly(A) tail and prevent deadenylation, with five compatible with N1-methylpseudouridine modification. One element, A7, made linear mRNA in mouse liver as stable as circular RNA while producing higher protein levels, with expression sustained for over two weeks. Source: https://www.nature.com/articles/s41587-025-02891-7 https://genomes.news/story/phage-genomes-carry-mutable-regions-that-hedge-against-defenses-48b0e15fef68/ https://genomes.news/story/phage-genomes-carry-mutable-regions-that-hedge-against-defenses-48b0e15fef68/ Thu, 13 Aug 2026 21:50:01 GMT Researchers studying Escherichia coli phages T2 and T4 identified contingency loci, hypermutable DNA regions where DNA polymerase slippage on simple sequence repeats causes reversible frameshift mutations. Using experimental evolution and genome sequencing, the study, published in Nature Microbiology, showed these loci generate genomic and phenotypic heterogeneity among phage progeny. The team also found simple sequence repeats widespread across diverse E. coli phage genomes, varying in abundance by gene function. Source: https://www.nature.com/articles/s41564-026-02445-w https://genomes.news/story/losing-one-tbx5-copy-disrupts-3d-dna-folding-in-heart-cells-d1309ae7e7c4/ https://genomes.news/story/losing-one-tbx5-copy-disrupts-3d-dna-folding-in-heart-cells-d1309ae7e7c4/ Thu, 13 Aug 2026 13:46:14 GMT Researchers at Gladstone Institutes found that the gene TBX5 helps physically fold DNA into the 3D architecture heart cells need to function. The study, published in Science, showed that losing one of the two normal copies of TBX5 dismantled this DNA organization, with effects on how many other genes were used by cells. The findings offer a new explanation for why haploinsufficiency in TBX5 causes congenital heart disease. Source: https://gladstone.org/news/misfolded-dna-blueprint-new-origin-genetic-disease https://genomes.news/story/uk-biobank-expands-genetic-analysis-to-diverse-ancestry-groups-800611ac85a2/ https://genomes.news/story/uk-biobank-expands-genetic-analysis-to-diverse-ancestry-groups-800611ac85a2/ Thu, 18 Sep 2025 00:00:00 GMT Researchers led by Karczewski and Gupta widened genome-wide association analyses across the UK Biobank to include a larger share of participants from diverse genetic ancestry groups, producing summary statistics for 7,266 traits. The meta-analysis turned up 14,676 significant loci that did not show up when the European ancestry group was analyzed alone, among them a new link between CAMK2D and triglycerides. The team also pointed to an ancestry-enriched missense variant in G6PD tied to several biomarker traits, and put all results online along with guidance for interpreting them. Source: https://doi.org/10.1038/s41588-025-02335-7 https://genomes.news/story/alphafold-3-architecture-described-in-nature-paper-bc53e878d901/ https://genomes.news/story/alphafold-3-architecture-described-in-nature-paper-bc53e878d901/ Wed, 08 May 2024 00:00:00 GMT DeepMind and collaborators published AlphaFold 3 in Nature, laying out a diffusion-based architecture that predicts the joint structure of complexes containing proteins, nucleic acids, small molecules, ions and modified residues. The authors reported far greater accuracy for protein-ligand interactions than state-of-the-art docking tools manage, plus much higher accuracy for protein-nucleic acid interactions compared with predictors built specifically for nucleic acids. Antibody-antigen prediction also improved over AlphaFold-Multimer v2.3. An addendum to the article was published on 27 November 2024. Source: https://doi.org/10.1038/s41586-024-07487-w https://genomes.news/story/all-of-us-releases-genome-sequences-for-245-388-participants-9cf0d9d79393/ https://genomes.news/story/all-of-us-releases-genome-sequences-for-245-388-participants-9cf0d9d79393/ Mon, 19 Feb 2024 00:00:00 GMT The All of Us Research Program has released clinical grade whole genome sequence data from 245,388 participants, according to a study published in Nature. Researchers found more than one billion genetic variants in the dataset, including over 275 million that had not been reported before. Of the participants, 77 percent came from communities historically under-represented in biomedical research, and 46 percent were from under-represented racial and ethnic minorities. By linking the genomic data to participants' electronic health records, the team evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across participants of European and African ancestry. Source: https://doi.org/10.1038/s41586-023-06957-x https://genomes.news/story/fda-approves-casgevy-and-lyfgenia-for-sickle-cell-disease-66a9dc0b8195/ https://genomes.news/story/fda-approves-casgevy-and-lyfgenia-for-sickle-cell-disease-66a9dc0b8195/ Fri, 08 Dec 2023 00:00:00 GMT The FDA approved Casgevy and Lyfgenia for patients 12 and older with sickle cell disease, the first cell-based gene therapies cleared for the condition. Sickle cell disease affects about 100,000 people in the United States. The disorder causes red blood cells to take on a crescent shape that restricts blood flow and oxygen delivery to tissues. Casgevy is the first FDA-approved treatment built on CRISPR/Cas9 genome editing technology, targeting the recurrent vaso-occlusive crises that mark the disease. Source: https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapies-treat-patients-sickle-cell-disease https://genomes.news/story/mhra-authorises-casgevy-world-first-crispr-gene-therapy-for-sickle-cel-93040f455d8c/ https://genomes.news/story/mhra-authorises-casgevy-world-first-crispr-gene-therapy-for-sickle-cel-93040f455d8c/ Thu, 16 Nov 2023 00:00:00 GMT The Medicines and Healthcare products Regulatory Agency has authorised Casgevy (exagamglogene autotemcel) for patients aged 12 and over with sickle-cell disease or transfusion-dependent beta-thalassemia. It is the first medicine to be licensed that uses CRISPR, the gene-editing tool whose inventors won the Nobel Prize in 2020. The MHRA reached its decision after assessing the therapy's safety, quality and effectiveness. Both conditions stem from errors in the genes for haemoglobin, which red blood cells use to carry oxygen around the body. Sickle-cell disease is particularly common in people with an African or Caribbean family background and can cause attacks of severe pain, serious infections and anaemia. Beta-thalassemia mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern origin. Source: https://www.gov.uk/government/news/mhra-authorises-world-first-gene-therapy-that-aims-to-cure-sickle-cell-disease-and-transfusion-dependent-thalassemia https://genomes.news/story/fda-clears-first-gene-therapy-for-young-duchenne-patients-f9fc336252e7/ https://genomes.news/story/fda-clears-first-gene-therapy-for-young-duchenne-patients-f9fc336252e7/ Thu, 22 Jun 2023 00:00:00 GMT The FDA approved Elevidys today as the first gene therapy for pediatric patients 4 through 5 years of age with Duchenne muscular dystrophy. Patients must carry a confirmed mutation in the DMD gene and have no pre-existing medical reason preventing treatment. Duchenne muscular dystrophy stems from a defective gene that leaves the body without dystrophin, a protein needed to keep muscle cells intact. The result is progressive muscle weakness that usually starts in early childhood. Source: https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy https://genomes.news/story/draft-human-pangenome-reference-published-8969ecd83ffd/ https://genomes.news/story/draft-human-pangenome-reference-published-8969ecd83ffd/ Wed, 10 May 2023 00:00:00 GMT The Human Pangenome Reference Consortium published a draft human pangenome reference in Nature, built from 47 ancestrally diverse individuals. The draft includes 94 phased haplotype assemblies covering more than 99 percent of expected sequence, adding 119 million base pairs beyond the existing GRCh38 reference genome. Running short-read sequence data against the new reference cut small variant discovery errors by 34 percent and roughly doubled structural variant detection, up 104 percent per haplotype. Source: https://doi.org/10.1038/s41586-023-05896-x https://genomes.news/story/finngen-study-finds-30-new-disease-associations-in-finnish-population-5afc6f6d186c/ https://genomes.news/story/finngen-study-finds-30-new-disease-associations-in-finnish-population-5afc6f6d186c/ Wed, 18 Jan 2023 00:00:00 GMT Researchers analyzed data from 224,737 participants in the FinnGen study, examining genetic associations across 1,932 disease endpoints. They found 30 new associations for 15 diseases already studied in large genome-wide association studies, plus 2,733 genome-wide significant associations at 2,496 independent loci. Fine mapping pointed to 148 coding variants linked to 83 endpoints. Many of the low-frequency variants involved were enriched more than twofold in the Finnish population compared with non-Finnish European individuals. Source: https://doi.org/10.1038/s41586-022-05473-8 https://genomes.news/story/gwas-catalog-adds-sequencing-data-links-to-polygenic-score-catalog-8fb59c48f474/ https://genomes.news/story/gwas-catalog-adds-sequencing-data-links-to-polygenic-score-catalog-8fb59c48f474/ Sun, 01 Jan 2023 00:00:00 GMT The NHGRI-EBI GWAS Catalog now holds variant-trait associations from more than 45,000 published genome-wide association studies covering over 5,000 human traits, plus more than 40,000 full summary statistics datasets, according to the team that curates it at the European Bioinformatics Institute. GWAS data volume has grown sharply in recent years, so the team updated its software to handle the scale and to release submitted summary statistics faster. The repository's scope now covers sequencing-based GWAS, gene-based analyses and copy number variation analyses. Links to the Polygenic Score Catalog and the International Mouse Phenotyping Consortium have also grown, and outreach efforts have brought in more shared datasets from under-represented traits such as cancer. Source: https://doi.org/10.1093/nar/gkac1010 https://genomes.news/story/nature-study-finds-father-daughter-pair-among-13-siberian-neanderthals-27ac12edeb70/ https://genomes.news/story/nature-study-finds-father-daughter-pair-among-13-siberian-neanderthals-27ac12edeb70/ Wed, 19 Oct 2022 00:00:00 GMT A study published in Nature analyzed genomic data from 13 Neanderthals recovered from two Middle Palaeolithic sites in the Altai Mountains of southern Siberia: 11 from Chagyrskaya Cave and two from Okladnikov Cave. Researchers used hybridization capture to obtain nuclear, mitochondrial, and Y-chromosome sequences from the remains. Among the Chagyrskaya individuals, they identified a father-daughter pair and a pair of second-degree relatives, showing that some of them lived at the same time. Up to one-third of the individuals' genomes carried long stretches of homozygosity, a sign the community was small. Y-chromosome diversity came in an order of magnitude lower than mitochondrial diversity, a pattern the authors say is best explained by female migration between communities. Source: https://doi.org/10.1038/s41586-022-05283-y https://genomes.news/story/svante-p-bo-wins-2022-nobel-prize-for-sequencing-extinct-hominin-genom-497f64f5991a/ https://genomes.news/story/svante-p-bo-wins-2022-nobel-prize-for-sequencing-extinct-hominin-genom-497f64f5991a/ Mon, 03 Oct 2022 00:00:00 GMT The Nobel Assembly at Karolinska Institutet awarded Svante Pääbo the 2022 Nobel Prize in Physiology or Medicine for his discoveries concerning the genomes of extinct hominins and human evolution. Pääbo sequenced the Neanderthal genome, an achievement once thought impossible. He also identified Denisova, a previously unknown extinct hominin species. His research found that gene transfer occurred from these extinct hominins to Homo sapiens after the migration out of Africa around 70,000 years ago, leaving genetic traits that still shape how the modern human immune system responds to infections. Source: https://www.nobelprize.org/prizes/medicine/2022/press-release/ https://genomes.news/story/common-gene-variants-change-how-a-rare-cleft-palate-mutation-plays-out-a606ef528c93/ https://genomes.news/story/common-gene-variants-change-how-a-rare-cleft-palate-mutation-plays-out-a606ef528c93/ Fri, 01 Jul 2022 00:00:00 GMT Researchers, including a team at the University of Texas Health Science Center, studied a three-generation family with non-syndromic cleft lip and palate. Whole-genome sequencing, genotyping, polygenic risk score analysis and linkage analysis turned up a rare PDGFRA missense variant (p.R914W) tied to the condition. Family members who carried the variant but showed no cleft had lower polygenic risk scores than those who did. In lab tests the variant lost its signaling activity, and disrupting pdgfra in zebrafish embryos produced unilateral orofacial clefting. Source: https://doi.org/10.1093/hmg/ddac037 https://genomes.news/story/scientists-finish-first-gapless-sequence-of-a-human-genome-00be7faccdf5/ https://genomes.news/story/scientists-finish-first-gapless-sequence-of-a-human-genome-00be7faccdf5/ Thu, 31 Mar 2022 00:00:00 GMT Researchers have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft. The Telomere to Telomere consortium, led by researchers at the National Human Genome Research Institute, University of California Santa Cruz, and University of Washington Seattle, produced the sequence, which spans roughly 3 billion DNA bases. Analyses of the complete sequence also produced more accurate maps for five chromosome arms. Using the new reference, the consortium identified more than 2 million additional variants in the human genome, including within 622 medically relevant genes. Source: https://www.genome.gov/news/news-release/researchers-generate-the-first-complete-gapless-sequence-of-a-human-genome https://genomes.news/story/polygenic-scores-lose-accuracy-fast-across-uk-biobank-ancestry-groups-dfde3512035b/ https://genomes.news/story/polygenic-scores-lose-accuracy-fast-across-uk-biobank-ancestry-groups-dfde3512035b/ Sat, 01 Jan 2022 00:00:00 GMT Researchers from the University of Copenhagen, the Institut Pasteur, and the Hebrew University of Jerusalem derived polygenic scores for 245 traits using UK Biobank data, then tested them across nine ancestry groups within that same cohort. Keeping training and testing inside one dataset let them isolate genetic distance from confounders like geography and differences in data collection. Scores trained on Northwestern European individuals lost accuracy sharply and systematically when applied to other ancestry groups. The decline showed up even within European subgroups. Source: https://doi.org/10.1016/j.ajhg.2021.11.008 https://genomes.news/story/diabetes-subtypes-traced-to-different-genetic-drivers-4a9da24383e6/ https://genomes.news/story/diabetes-subtypes-traced-to-different-genetic-drivers-4a9da24383e6/ Thu, 04 Nov 2021 00:00:00 GMT Researchers working from Lund University's ANDIS study, with replication in Finland's DIREVA and Botnia cohorts, ran genome-wide association and genetic risk score analysis on five previously identified type 2 diabetes subtypes. One finding stood out: the severe insulin-resistant subtype associated with a genetic risk score for fasting insulin, but not with TCF7L2 variants or insulin-secretion risk scores. A variant near the LRMDA gene, rs10824307, associated uniquely with mild obesity-related diabetes. Source: https://doi.org/10.1038/s41588-021-00948-2 https://genomes.news/story/genetic-risk-score-tracked-melanoma-cases-in-older-aspree-trial-group-f385b0b0bf99/ https://genomes.news/story/genetic-risk-score-tracked-melanoma-cases-in-older-aspree-trial-group-f385b0b0bf99/ Fri, 01 Oct 2021 00:00:00 GMT Bakshi and colleagues tested a 55-variant polygenic risk score for cutaneous melanoma in 12,712 participants of the ASPirin in Reducing Events in the Elderly trial. Mean age at baseline was 75. Over a median follow-up of 4.7 years, the score was associated with incident melanoma (hazard ratio 1.46 per standard deviation) and with prevalent melanoma (odds ratio 1.55 per standard deviation). Participants in the highest-risk group had roughly two to four times the odds of melanoma compared with those in the lowest-risk group. Source: https://doi.org/10.1093/jnci/djab076 https://genomes.news/story/acmg-publishes-carrier-screening-guidance-for-pregnancy-preconception-82a48af5b288/ https://genomes.news/story/acmg-publishes-carrier-screening-guidance-for-pregnancy-preconception-82a48af5b288/ Tue, 20 Jul 2021 00:00:00 GMT The American College of Medical Genetics and Genomics has published a practice resource in Genetics in Medicine on carrier screening for autosomal recessive and X-linked conditions during pregnancy and preconception. Carrier screening began 50 years ago with programs targeted at specific ethnic groups, including Tay-Sachs disease in the Ashkenazi Jewish population and sickle cell disease in Black individuals. Cystic fibrosis became the first condition offered panethnic screening, followed by spinal muscular atrophy. Next-generation sequencing has since made it possible to identify variants across many genes at once, cheaply and at scale. ACMG's resource sets out a consistent, equitable approach for offering carrier screening to all individuals, with the goal of helping patients understand their reproductive risks and make informed decisions. Source: https://www.nature.com/articles/s41436-021-01203-z https://genomes.news/story/alphafold-predicts-protein-structures-with-atomic-accuracy-in-casp14-t-08efed35fa6c/ https://genomes.news/story/alphafold-predicts-protein-structures-with-atomic-accuracy-in-casp14-t-08efed35fa6c/ Thu, 15 Jul 2021 00:00:00 GMT Researchers published a deep learning model called AlphaFold in Nature that predicts three dimensional protein structures from amino acid sequences. The neural network draws on physical and biological knowledge about protein structure, including multi-sequence alignments, and its predictions were competitive with experimental structures in a majority of cases. In the 14th Critical Assessment of protein Structure Prediction, CASP14, the system predicted protein structures with atomic accuracy even when no similar known structure existed to guide it. About 100,000 unique protein structures have been determined through decades of experimental work, a small fraction of the billions of known protein sequences, and each structure can take months or years to solve. Source: https://doi.org/10.1038/s41586-021-03819-2 https://genomes.news/story/immune-gene-mismatches-between-partners-may-boost-sperm-survival-47a19624d784/ https://genomes.news/story/immune-gene-mismatches-between-partners-may-boost-sperm-survival-47a19624d784/ Sat, 12 Jun 2021 00:00:00 GMT Researchers at the Finnish Red Cross Blood Service and University of Eastern Finland exposed sperm from several men to follicular fluid or cervical mucus from several women, testing whether immune gene compatibility affects how gametes function. Sperm viability in follicular fluid rose when partners' HLA eplets were structurally dissimilar. In cervical mucus, viability rose instead with immunoglobulin structural dissimilarity. Both HLA and immunoglobulin differences, the researchers say, may play a role in how the female reproductive tract selects for immunologically compatible partners. Source: https://doi.org/10.1111/jeb.13872 https://genomes.news/story/base-editing-cuts-cholesterol-in-monkeys-nature-study-finds-f4f45e4baa71/ https://genomes.news/story/base-editing-cuts-cholesterol-in-monkeys-nature-study-finds-f4f45e4baa71/ Wed, 19 May 2021 00:00:00 GMT A single infusion did the work. Researchers reported in Nature that CRISPR base editors delivered by lipid nanoparticles knocked down the PCSK9 gene in the livers of cynomolgus monkeys, nearly eliminating it. Blood levels of PCSK9 fell by about 90 percent, and LDL cholesterol dropped by about 60 percent. Both effects held steady for at least eight months after the one-time treatment. Source: https://doi.org/10.1038/s41586-021-03534-y https://genomes.news/story/study-across-five-ancestries-finds-new-type-2-diabetes-risk-genes-21dadbe2c77a/ https://genomes.news/story/study-across-five-ancestries-finds-new-type-2-diabetes-risk-genes-21dadbe2c77a/ Tue, 09 Mar 2021 00:00:00 GMT Researchers from the PAGE and DIAGRAM Consortia analyzed 53,102 type 2 diabetes cases and 193,679 control subjects across African, Hispanic, Asian, Native Hawaiian, and European population groups. In African ancestry individuals they found a risk variant in the TGFB1 gene, which replicated in independent studies of African ancestry. They also found a variant in the BACE2 gene associated with risk across multiple ancestries, which likewise replicated. A genetic risk score built from the findings performed unevenly across groups: comparing people in the top risk category, the odds ratio was highest in Asian and European ancestry populations, followed by Hispanic, Native Hawaiian, and African ancestry populations. Source: https://doi.org/10.1016/j.xhgg.2021.100029 https://genomes.news/story/charpentier-and-doudna-win-2020-nobel-prize-in-chemistry-8ea6726284d3/ https://genomes.news/story/charpentier-and-doudna-win-2020-nobel-prize-in-chemistry-8ea6726284d3/ Wed, 07 Oct 2020 00:00:00 GMT The Royal Swedish Academy of Sciences has awarded the 2020 Nobel Prize in Chemistry to Emmanuelle Charpentier of the Max Planck Unit for the Science of Pathogens and Jennifer A. Doudna of the University of California, Berkeley, for developing a method for genome editing. While studying the bacterium Streptococcus pyogenes, Charpentier discovered a previously unknown molecule called tracrRNA, part of an ancient bacterial immune system that disarms viruses by cleaving their DNA. She published the finding in 2011 and that same year began working with Doudna, a biochemist with deep knowledge of RNA. Together they recreated the bacteria's genetic scissors in a test tube and simplified the components so they were easier to use. The resulting tool, CRISPR/Cas9, lets researchers change the DNA of animals, plants and microorganisms over the course of a few weeks, work that used to be difficult, slow and sometimes impossible. Source: https://www.nobelprize.org/prizes/chemistry/2020/press-release/ https://genomes.news/story/cervical-mucus-may-sort-sperm-by-hla-compatibility-study-finds-ce72c47c85ce/ https://genomes.news/story/cervical-mucus-may-sort-sperm-by-hla-compatibility-study-finds-ce72c47c85ce/ Wed, 19 Aug 2020 00:00:00 GMT Researchers at the University of Eastern Finland, working with Venezuelan collaborators, combined sperm and cervical mucus from multiple men and women in a full factorial design, then measured swimming velocity, hyperactivation, and viability. Sperm performance depended strongly on which male-female pair was combined. Viability was tied to how genetically dissimilar the couple's HLA profiles were. Published in Proceedings of the Royal Society B, the findings suggest cervical mucus may favor sperm from immunogenetically compatible partners after mating has already occurred. Source: https://doi.org/10.1098/rspb.2020.1682 https://genomes.news/story/study-catalogs-loss-of-function-variants-across-141-456-human-genomes-659b261b7e2f/ https://genomes.news/story/study-catalogs-loss-of-function-variants-across-141-456-human-genomes-659b261b7e2f/ Wed, 27 May 2020 00:00:00 GMT Researchers pulled sequencing data from 125,748 exomes and 15,708 whole genomes into the Genome Aggregation Database, according to a study published in Nature. After filtering out sequencing and annotation errors, the team identified 443,769 high-confidence predicted loss of function variants. They then used an updated mutation rate model to classify human protein coding genes along a spectrum of tolerance to gene inactivation. Source: https://doi.org/10.1038/s41586-020-2308-7 https://genomes.news/story/meta-analysis-finds-no-overall-link-between-mhc-gene-differences-and-h-632a83321c52/ https://genomes.news/story/meta-analysis-finds-no-overall-link-between-mhc-gene-differences-and-h-632a83321c52/ Mon, 20 Apr 2020 00:00:00 GMT A meta-analysis published in a Theo Murphy meeting issue on olfactory communication found no significant overall link between major histocompatibility complex dissimilarity and human mate selection. The researchers, Havlíček, Winternitz and Roberts, pooled genomic mate-selection studies, relationship satisfaction data and odour preference trials. Genomic studies showed no association between MHC dissimilarity and partner choice among actual couples, and MHC effects appeared independent of genomic background. The effect on relationship satisfaction was not significant either, and the authors found evidence of publication bias in that body of research. Odour preference studies likewise showed no significant association. Combining effect sizes across all four categories produced no overall significant effect of MHC similarity on human mate selection. The authors recommend larger studies with greater geographical and cultural diversity that control for genome-wide similarity, along with closer attention to the mechanisms behind MHC-associated odour preferences and to MHC-associated pregnancy loss. Source: https://doi.org/10.1098/rstb.2019.0260 https://genomes.news/story/prime-editing-writes-new-dna-sequences-without-cutting-both-strands-a558da54c4ad/ https://genomes.news/story/prime-editing-writes-new-dna-sequences-without-cutting-both-strands-a558da54c4ad/ Mon, 21 Oct 2019 00:00:00 GMT Researchers described a genome editing method called prime editing in Nature. It pairs a catalytically impaired Cas9 endonuclease with an engineered reverse transcriptase and a prime editing guide RNA, which specifies the target site and encodes the edit. The system writes new genetic information directly into DNA, without double-strand breaks or donor DNA templates. The team performed more than 175 edits in human cells, including targeted insertions, deletions, and all 12 types of point mutation. They corrected the primary genetic causes of sickle cell disease and Tay-Sachs disease, installed a protective mutation in PRNP, and inserted tags and epitopes into target loci. Four human cell lines and primary post-mitotic mouse cortical neurons supported prime editing, though efficiency varied. Compared with homology-directed repair, prime editing showed higher or similar efficiency with fewer byproducts, and it produced much lower off-target editing than Cas9 nuclease at known Cas9 off-target sites. Source: https://doi.org/10.1038/s41586-019-1711-4 https://genomes.news/story/2019-study-catalogs-571-genes-separating-modern-humans-from-neandertha-48eed1411fe3/ https://genomes.news/story/2019-study-catalogs-571-genes-separating-modern-humans-from-neandertha-48eed1411fe3/ Tue, 11 Jun 2019 00:00:00 GMT Kuhlwilm and Boeckx, in a 2019 paper published via doi.org, identified 571 genes carrying non-synonymous changes at high frequency in present-day humans compared with archaic hominins such as Neanderthals. Molecular mechanisms involved in cell division stood out among these changes, along with networks affecting the cellular features of neurons. The authors proposed that some of these changes, together with non-coding variants they also present, may shape brain growth trajectory and cognitive traits. They recommended prioritizing the changes for experimental validation. Source: https://doi.org/10.1038/s41598-019-44877-x https://genomes.news/story/fda-approves-zolgensma-gene-therapy-for-infant-sma-ad6b508a8df1/ https://genomes.news/story/fda-approves-zolgensma-gene-therapy-for-infant-sma-ad6b508a8df1/ Fri, 24 May 2019 00:00:00 GMT The FDA has approved Zolgensma (onasemnogene abeparvovec-xioi) for patients under two years old with spinal muscular atrophy who carry bi-allelic mutations in the SMN1 gene. AveXis, a Novartis company, makes the drug. It is a one-time intravenous infusion that supplies a functional copy of the SMN gene, meant to sustain SMN protein expression and stop disease progression. Novartis says it is the first and only FDA-approved gene therapy for SMA, and it covers patients diagnosed before symptoms appear, not only those already showing signs of the disease. Source: https://www.novartis.com/news/media-releases/avexis-receives-fda-approval-zolgensma-first-and-only-gene-therapy-pediatric-patients-spinal-muscular-atrophy-sma https://genomes.news/story/genetic-score-tied-to-weight-gain-from-childhood-to-adulthood-b452f4cfbe6a/ https://genomes.news/story/genetic-score-tied-to-weight-gain-from-childhood-to-adulthood-b452f4cfbe6a/ Mon, 01 Apr 2019 00:00:00 GMT Researchers led by Amit Khera at the Broad Institute and Massachusetts General Hospital built a polygenic predictor from 2.1 million common DNA variants and tested it in more than 300,000 people, from birth through middle age. Among middle-aged adults, weight varied by 13 kilograms across score deciles, and the risk of severe obesity varied 25-fold. In a separate birth cohort followed over time, birthweight barely differed by decile, but a gap in weight opened up in early childhood and grew to 12 kilograms by age 18. Source: https://doi.org/10.1016/j.cell.2019.03.028 https://genomes.news/story/hla-gene-algorithm-predicts-recurrent-miscarriage-risk-2cb74a4416c0/ https://genomes.news/story/hla-gene-algorithm-predicts-recurrent-miscarriage-risk-2cb74a4416c0/ Thu, 07 Mar 2019 00:00:00 GMT Researchers including a team from the Institute of Human Immunology in Warsaw built an algorithm called IMMATCH that analyzed HLA gene haplotypes from couples with histories of successful pregnancies or recurrent miscarriage. Using high-resolution typing and linear algebra on peptide binding affinity data, the algorithm retrospectively predicted recurrent miscarriage with an AUC of 0.71 (p = 0.0035). With an adjustable threshold, it could reach 86% sensitivity. The work, published via doi.org, sets out a method for calculating genetic risk of recurrent miscarriage from paternal and maternal HLA data. Source: https://doi.org/10.1038/s41746-019-0089-x https://genomes.news/story/study-finds-mhc-mate-preference-varies-by-population-c516a24e1864/ https://genomes.news/story/study-finds-mhc-mate-preference-varies-by-population-c516a24e1864/ Fri, 01 Mar 2019 00:00:00 GMT Researchers in France studied genotype data from 883 European and Middle Eastern couples, looking for signs that people choose partners with dissimilar immune-system genes. In couples from The Netherlands and Northern Europe more broadly, spouses were significantly less alike at the MHC region than random pairs would be, a gap wider than seen across the rest of the genome. Couples from Israel showed no such pattern at the MHC region. Genome-wide, though, those Israeli couples were more similar than random pairs, not less. Source: https://doi.org/10.1098/rspb.2018.2664 https://genomes.news/story/study-finds-five-genetic-risk-loci-for-autism-fd41122bb4e5/ https://genomes.news/story/study-finds-five-genetic-risk-loci-for-autism-fd41122bb4e5/ Mon, 25 Feb 2019 00:00:00 GMT Researchers led by Grove and Ripke drew on a Danish population resource to run a genome-wide association meta-analysis of 18,381 people with autism spectrum disorder and 27,969 controls, published via doi.org in 2019. They identified five genome-wide-significant loci tied to autism. Because autism's genetic architecture overlaps significantly with schizophrenia, major depression and educational attainment, the team leveraged those GWAS results and turned up seven more loci shared with those traits at the same strict significance level. Dissecting the polygenic architecture further, the authors found both quantitative and qualitative heterogeneity across autism subtypes, with results pointing toward neuronal function and corticogenesis. Source: https://doi.org/10.1038/s41588-019-0344-8 https://genomes.news/story/study-links-102-gene-variants-to-depression-3c74a0f0e467/ https://genomes.news/story/study-links-102-gene-variants-to-depression-3c74a0f0e467/ Mon, 04 Feb 2019 00:00:00 GMT A team led by the University of Edinburgh combined genome-wide data from 807,553 people across three earlier depression studies and found 102 independent genetic variants tied to major depression, along with 269 genes and 15 gene sets. Many of the genes relate to synaptic structure and neurotransmission, and an enrichment analysis pointed to the prefrontal brain regions. When the researchers checked the results against an independent sample of 1,306,354 people, 87 of the 102 variants held up after correction for multiple testing. Source: https://doi.org/10.1038/s41593-018-0326-7 https://genomes.news/story/chinese-scientist-claims-first-genome-edited-babies-born-this-month-f01fecfd74ff/ https://genomes.news/story/chinese-scientist-claims-first-genome-edited-babies-born-this-month-f01fecfd74ff/ Mon, 26 Nov 2018 00:00:00 GMT A Chinese scientist claims to have helped make the world's first genome-edited babies, twin girls born this month. The announcement, made public through a report on Nature's site, has provoked shock and outrage among scientists around the world over the use of genome editing in human embryos. Source: https://www.nature.com/articles/d41586-018-07545-0 https://genomes.news/story/genome-wide-risk-scores-flag-disease-prone-groups-without-rare-mutatio-4ca77df5a4d4/ https://genomes.news/story/genome-wide-risk-scores-flag-disease-prone-groups-without-rare-mutatio-4ca77df5a4d4/ Mon, 13 Aug 2018 00:00:00 GMT A study in Nature Genetics describes genome-wide polygenic risk scores for five common diseases, built and tested against GWAS data. The scores flagged 8.0 percent of the population at more than three times the normal risk for coronary artery disease. Similar high-risk groups turned up for atrial fibrillation, type 2 diabetes, inflammatory bowel disease, and breast cancer. For coronary artery disease, the share of people caught at that risk level was 20 times higher than the carrier frequency of rare monogenic mutations that confer comparable risk. Source: https://doi.org/10.1038/s41588-018-0183-z https://genomes.news/story/study-links-111-gene-regions-to-atrial-fibrillation-1fd8cea5a85f/ https://genomes.news/story/study-links-111-gene-regions-to-atrial-fibrillation-1fd8cea5a85f/ Mon, 30 Jul 2018 00:00:00 GMT A genome-wide association study of >1,000,000 people identified 142 independent risk variants at 111 loci linked to atrial fibrillation. The research by Nielsen JB, Thorolfsdottir RB, Fritsche LG and colleagues evaluated 60,620 cases and 970,216 controls. It prioritized 151 functional candidate genes. Many variants fell near genes tied to serious human heart defects, such as GATA4, MYH6, NKX2-5, PITX2, and TBX5, or near genes vital for striated muscle function. Source: https://doi.org/10.1038/s41588-018-0171-3 https://genomes.news/story/study-finds-1-271-gene-variants-linked-to-educational-attainment-9d585159b925/ https://genomes.news/story/study-finds-1-271-gene-variants-linked-to-educational-attainment-9d585159b925/ Mon, 23 Jul 2018 00:00:00 GMT Researchers analyzed genetic data from roughly 1.1 million people and published the results in Nature Genetics. They found 1,271 independent genome-wide-significant SNPs tied to educational attainment, many of them pointing to genes involved in brain development and communication between neurons. Effects varied across environments, the team found. A separate look at the X chromosome turned up 10 more significant SNPs, with SNP heritability of about 0.3 percent in both men and women, a pattern consistent with partial dosage compensation. Combining educational attainment with three related cognitive measures in a joint analysis produced polygenic scores that account for 11 to 13 percent of the variance in educational attainment and 7 to 10 percent of the variance in cognitive performance. Source: https://doi.org/10.1038/s41588-018-0147-3