Nasa Sinnott-Armstrong

TL;DR: The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

TL;DR: Property of TWAS is explored as a potential approach to prioritize causal genes at GWAS loci, by using simulations and case studies of literature-curated candidate causal genes for schizophrenia, low-density-lipoprotein cholesterol and Crohn’s disease.

TL;DR: Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.

TL;DR: A new analysis based on the the UK Biobank, a large, independent dataset, finds that the signals of selection using UKB effect estimates are strongly attenuated or absent and the conclusion of strong polygenic adaptation now lacks support.

TL;DR: In this article, the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n = 363,228 individuals) was evaluated and the results delineate the genetic underlying of biomarkers and their causal influences on diseases and improve genetic risk stratification for common diseases.