[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 …

Global detection of human variants and isoforms by deep proteome sequencing

P Sinitcyn, AL Richards, RJ Weatheritt… - Nature …, 2023‏ - nature.com
An average shotgun proteomics experiment detects approximately 10,000 human proteins
from a single sample. However, individual proteins are typically identified by peptide …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021‏ - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

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 …

Single-cell analysis of chromatin accessibility in the adult mouse brain

S Zu, YE Li, K Wang, EJ Armand, S Mamde, ML Amaral… - Nature, 2023‏ - nature.com
Recent advances in single-cell technologies have led to the discovery of thousands of brain
cell types; however, our understanding of the gene regulatory programs in these cell types is …

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 …

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 …

[HTML][HTML] 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 …