[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders

PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …

Sequencing depth and coverage: key considerations in genomic analyses

D Sims, I Sudbery, NE Ilott, A Heger… - Nature Reviews …, 2014 - nature.com
Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …

Expanded encyclopaedias of DNA elements in the human and mouse genomes

JE Moore, MJ Purcaro, HE Pratt, CB Epstein… - Nature, 2020 - nature.com
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Association analysis identifies 65 new breast cancer risk loci

K Michailidou, S Lindström, J Dennis, J Beesley, S Hui… - Nature, 2017 - nature.com
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …

Proteogenomic analysis of human colon cancer reveals new therapeutic opportunities

S Vasaikar, C Huang, X Wang, VA Petyuk, SR Savage… - Cell, 2019 - cell.com
We performed the first proteogenomic study on a prospectively collected colon cancer
cohort. Comparative proteomic and phosphoproteomic analysis of paired tumor and normal …

Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - BioRxiv, 2018 - biorxiv.org
While many disease-associated variants have been identified through genome-wide
association studies, their downstream molecular consequences remain unclear. To identify …

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

X Li, Z Li, H Zhou, SM Gaynor, Y Liu, H Chen, R Sun… - Nature …, 2020 - nature.com
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

JZ Liu, S Van Sommeren, H Huang, SC Ng, R Alberts… - Nature …, 2015 - nature.com
Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease
(IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or …

WashU epigenome browser update 2022

D Li, D Purushotham, JK Harrison, S Hsu… - Nucleic acids …, 2022 - academic.oup.com
Abstract WashU Epigenome Browser (https://epigenomegateway. wustl. edu/browser/) is a
web-based genomic data exploration tool that provides visualization, integration, and …