Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies
provides an attractive solution to the problem of collecting large sample sizes for discovering …
provides an attractive solution to the problem of collecting large sample sizes for discovering …
[HTML][HTML] Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics
Polygenic risk scores (PRS) calculated from genome-wide association studies (GWAS) of
Europeans are known to have substantially reduced predictive accuracy in non-European …
Europeans are known to have substantially reduced predictive accuracy in non-European …
[HTML][HTML] Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis
Y Han, J Byun, C Zhu, R Sun, JY Roh… - Nature …, 2023 - nature.com
Primary sclerosing cholangitis (PSC) is a rare autoimmune bile duct disease that is strongly
associated with immune-mediated disorders. In this study, we implemented multitrait joint …
associated with immune-mediated disorders. In this study, we implemented multitrait joint …
Translating pharmacogenomic sequencing data into drug response predictions—how to interpret variants of unknown significance
The rapid development of sequencing technologies during the past 20 years has provided a
variety of methods and tools to interrogate human genomic variations at the population level …
variety of methods and tools to interrogate human genomic variations at the population level …
[HTML][HTML] Genome-wide association study of obstructive sleep apnoea in the Million Veteran Program uncovers genetic heterogeneity by sex
Background Genome-wide association studies (GWAS) for obstructive sleep apnoea (OSA)
are limited due to the underdiagnosis of OSA, leading to misclassification of OSA, which …
are limited due to the underdiagnosis of OSA, leading to misclassification of OSA, which …
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study
Long non-coding RNAs (lncRNAs) are known to perform important regulatory functions in
lipid metabolism. Large-scale whole-genome sequencing (WGS) studies and new statistical …
lipid metabolism. Large-scale whole-genome sequencing (WGS) studies and new statistical …
VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome
Z Wang, G Zhao, Z Zhu, Y Wang, X Xiang… - Nucleic Acids …, 2024 - academic.oup.com
VarCards, an online database, combines comprehensive variant-and gene-level annotation
data to streamline genetic counselling for coding variants. Recognising the increasing …
data to streamline genetic counselling for coding variants. Recognising the increasing …
[HTML][HTML] Genetic influences on circulating retinol and its relationship to human health
Retinol is a fat-soluble vitamin that plays an essential role in many biological processes
throughout the human lifespan. Here, we perform the largest genome-wide association …
throughout the human lifespan. Here, we perform the largest genome-wide association …
The 2023 Nucleic Acids Research Database Issue and the online molecular biology database collection
DJ Rigden, XM Fernández - Nucleic Acids Research, 2023 - academic.oup.com
Abstract The 2023 Nucleic Acids Research Database Issue contains 178 papers ranging
across biology and related fields. There are 90 papers reporting on new databases and 82 …
across biology and related fields. There are 90 papers reporting on new databases and 82 …
[HTML][HTML] Genome-wide association study identifies high-impact susceptibility loci for HCC in North America
Conclusions: Our GWAS highlights novel genetic susceptibility of nonviral HCC among
European descent populations from North America with substantial heritability. Selected …
European descent populations from North America with substantial heritability. Selected …