Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

JA Morris, C Caragine, Z Daniloski, J Domingo, T Barry… - Science, 2023 - science.org
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …

The genomic landscape of 2,023 colorectal cancers

AJ Cornish, AJ Gruber, B Kinnersley, D Chubb… - Nature, 2024 - nature.com
Colorectal carcinoma (CRC) is a common cause of mortality, but a comprehensive
description of its genomic landscape is lacking,,,,,,–. Here we perform whole-genome …

Using SPAdes de novo assembler

A Prjibelski, D Antipov, D Meleshko… - Current protocols in …, 2020 - Wiley Online Library
Abstract SPAdes—St. Petersburg genome Assembler—was originally developed for de
novo assembly of genome sequencing data produced for cultivated microbial isolates and …

PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

MA Kamat, JA Blackshaw, R Young, P Surendran… - …, 2019 - academic.oup.com
PhenoScanner is a curated database of publicly available results from large-scale genetic
association studies in humans. This online tool facilitates 'phenome scans', where genetic …

Index and biological spectrum of human DNase I hypersensitive sites

W Meuleman, A Muratov, E Rynes, J Halow, K Lee… - Nature, 2020 - nature.com
DNase I hypersensitive sites (DHSs) are generic markers of regulatory DNA,,,–and contain
genetic variations associated with diseases and phenotypic traits,–. We created high …

Insights into human genetic variation and population history from 929 diverse genomes

A Bergström, SA McCarthy, R Hui, MA Almarri, Q Ayub… - Science, 2020 - science.org
INTRODUCTION Large-scale human genome-sequencing studies to date have been limited
to large, metropolitan populations or to small numbers of genomes from each group. Much …

A compendium of genetic regulatory effects across pig tissues

J Teng, Y Gao, H Yin, Z Bai, S Liu, H Zeng… - Nature …, 2024 - nature.com
Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been
established to develop a public resource of genetic regulatory variants in livestock, which is …

Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

AW Turner, SS Hu, JV Mosquera, WF Ma… - Nature …, 2022 - nature.com
Coronary artery disease (CAD) is a complex inflammatory disease involving genetic
influences across cell types. Genome-wide association studies have identified over 200 loci …

The stress granule transcriptome reveals principles of mRNA accumulation in stress granules

A Khong, T Matheny, S Jain, SF Mitchell, JR Wheeler… - Molecular cell, 2017 - cell.com
Stress granules are mRNA-protein assemblies formed from nontranslating mRNAs. Stress
granules are important in the stress response and may contribute to some degenerative …

RegulonDB v 10.5: tackling challenges to unify classic and high throughput knowledge of gene regulation in E. coli K-12

A Santos-Zavaleta, H Salgado… - Nucleic acids …, 2019 - academic.oup.com
RegulonDB, first published 20 years ago, is a comprehensive electronic resource about
regulation of transcription initiation of Escherichia coli K-12 with decades of knowledge from …