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Medrxiv : the Preprint Server for Health Sciences|January 8, 2026
Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare diseaseNikolas A Baya, Frederik H Lassen, Barney Hill, et al.
American Journal of Human Genetics|June 22, 2026
Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare diseaseNikolas A Baya, Frederik H Lassen, Barney Hill, et al.
Molecular Therapy. Nucleic Acids|August 2, 2026
Accurately modeling RNase H-mediated antisense oligonucleotide efficacyBarney Hill, Maisie R Jaques, Remya R Nair, et al.
Cell Genomics|June 29, 2024
Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK BiobankFrederik H Lassen, Samvida S Venkatesh, Nikolas Baya, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distributionNikolas A Baya, Ilknur Sur Erdem, Samvida S Venkatesh, et al.
American Journal of Human Genetics|September 5, 2025
Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distributionNikolas A Baya, Ilknur Sur Erdem, Samvida S Venkatesh, et al.
American Journal of Human Genetics|May 2, 2026
Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseasesFrederik H Lassen, Georgios Kalantzis, Andrea Eoli, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrumSamvida S Venkatesh, Laura B L Wittemans, Duncan S Palmer, et al.
Nature Genetics|April 14, 2025
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrumSamvida S Venkatesh, Laura B L Wittemans, Duncan S Palmer, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaborationDuncan S Palmer, Barney Hill, Sam Hodgson, et al.
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