The post-GWAS era: from association to function

MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

Optimizing methods and dodging pitfalls in microbiome research

D Kim, CE Hofstaedter, C Zhao, L Mattei, C Tanes… - Microbiome, 2017 - Springer
Research on the human microbiome has yielded numerous insights into health and disease,
but also has resulted in a wealth of experimental artifacts. Here, we present suggestions for …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

Stem cells, genome editing, and the path to translational medicine

F Soldner, R Jaenisch - Cell, 2018 - cell.com
The derivation of human embryonic stem cells (hESCs) and the stunning discovery that
somatic cells can be reprogrammed into human induced pluripotent stem cells (hiPSCs) …

High-resolution genome-wide functional dissection of transcriptional regulatory regions and nucleotides in human

X Wang, L He, SM Goggin, A Saadat, L Wang… - Nature …, 2018 - nature.com
Genome-wide epigenomic maps have revealed millions of putative enhancers and
promoters, but experimental validation of their function and high-resolution dissection of …

Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants

CK Rummel, M Gagliardi, R Ahmad, A Herholt… - Cell, 2023 - cell.com
Schizophrenia (SCZ) is a highly heritable mental disorder with thousands of associated
genetic variants located mostly in the noncoding space of the genome. Translating these …

Enhancer domains predict gene pathogenicity and inform gene discovery in complex disease

X Wang, DB Goldstein - The American Journal of Human Genetics, 2020 - cell.com
Non-coding transcriptional regulatory elements are critical for controlling the spatiotemporal
expression of genes. Here, we demonstrate that the sizes and number of enhancers linked …