[This corrects the article DOI: 10.1371/journal.pone.0172995.].
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Am J Hum Genet
October 2024
Regeneron Genetics Center, Tarrytown, NY, USA. Electronic address:
Gene-based burden tests are a popular and powerful approach for analysis of exome-wide association studies. These approaches combine sets of variants within a gene into a single burden score that is then tested for association. Typically, a range of burden scores are calculated and tested across a range of annotation classes and frequency bins.
View Article and Find Full Text PDFJ Hum Genet
June 2024
UCL Genetics Institute, University College London, London, UK.
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia had implicated four genes, LDLR, PCSK9, APOC3 and IFITM5, at exome-wide significance. In addition, a further 43 protein-coding genes were significant with an uncorrected p value of <0.001.
View Article and Find Full Text PDFSci Rep
August 2023
Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Treatment-resistant depression (TRD) is a severe form of major depressive disorder (MDD) with substantial public health impact and poor treatment outcome. Treatment outcome in MDD is significantly heritable, but genome-wide association studies have failed to identify replicable common marker alleles, suggesting a potential role for uncommon variants. Here we investigated the hypothesis that uncommon, putatively functional genetic variants are associated with TRD.
View Article and Find Full Text PDFAm J Respir Crit Care Med
August 2023
Department of Biostatistics and.
Genome-wide association studies have identified common variants of lung cancer. However, the contribution of rare exome-wide variants, especially protein-coding variants, to cancers remains largely unexplored. To evaluate the role of human exomes in genetic predisposition to lung cancer.
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