Rare coding variant analysis for human diseases across biobanks and ancestries
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …
A call to action to scale up research and clinical genomic data sharing
Genomic data from millions of individuals have been generated worldwide to drive discovery
and clinical impact in precision medicine. Lowering the barriers to using these data …
and clinical impact in precision medicine. Lowering the barriers to using these data …
A deep catalogue of protein-coding variation in 983,578 individuals
Rare coding variants that substantially affect function provide insights into the biology of a
gene,–. However, ascertaining the frequency of such variants requires large sample sizes …
gene,–. However, ascertaining the frequency of such variants requires large sample sizes …
Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank
Abstract Whole-genome sequencing (WGS), whole-exome sequencing (WES) and array
genotyping with imputation (IMP) are common strategies for assessing genetic variation and …
genotyping with imputation (IMP) are common strategies for assessing genetic variation and …
Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations
A Capalbo, G de Wert, H Mertes… - Human reproduction …, 2024 - academic.oup.com
BACKGROUND The genetic composition of embryos generated by in vitro fertilization (IVF)
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …
can be examined with preimplantation genetic testing (PGT). Until recently, PGT was limited …
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease
Y Zhao, M Chukanova, KA Kentistou… - Nature Genetics, 2024 - nature.com
Obesity is a major risk factor for many common diseases and has a substantial heritable
component. To identify new genetic determinants, we performed exome-sequence analyses …
component. To identify new genetic determinants, we performed exome-sequence analyses …
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
SF Kingsmore, M Wright, LD Smith, Y Liang… - The American Journal of …, 2024 - cell.com
Genome-sequence-based newborn screening (gNBS) has substantial potential to improve
outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major …
outcomes in hundreds of severe childhood genetic disorders (SCGDs). However, a major …
Imputation accuracy across global human populations
Genotype imputation is now fundamental for genome-wide association studies but lacks
fairness due to the underrepresentation of references from non-European ancestries. The …
fairness due to the underrepresentation of references from non-European ancestries. The …
Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas
Latin Americans are underrepresented in genetic studies, increasing disparities in
personalized genomic medicine. Despite available genetic data from thousands of Latin …
personalized genomic medicine. Despite available genetic data from thousands of Latin …
MGA loss-of-function variants cause premature ovarian insufficiency
S Tang, T Guo, C Song, L Wang, J Zhang… - The Journal of Clinical …, 2024 - jci.org
Although premature ovarian insufficiency (POI), a common cause of female infertility and
subfertility, has a well-established hereditary component, the genetic factors currently …
subfertility, has a well-established hereditary component, the genetic factors currently …