[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic

EA Boyle, YI Li, JK Pritchard - Cell, 2017 - cell.com
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

[PDF][PDF] 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 …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

[PDF][PDF] Integrated genomic characterization of pancreatic ductal adenocarcinoma

BJ Raphael, RH Hruban, AJ Aguirre, RA Moffitt, JJ Yeh… - Cancer cell, 2017 - cell.com
We performed integrated genomic, transcriptomic, and proteomic profiling of 150 pancreatic
ductal adenocarcinoma (PDAC) specimens, including samples with characteristic low …

Genetics of blood lipids among~ 300,000 multi-ethnic participants of the Million Veteran Program

D Klarin, SM Damrauer, K Cho, YV Sun, TM Teslovich… - Nature …, 2018 - nature.com
Abstract The Million Veteran Program (MVP) was established in 2011 as a national research
initiative to determine how genetic variation influences the health of US military veterans …

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

R Karlsson Linnér, P Biroli, E Kong, SFW Meddens… - Nature …, 2019 - nature.com
Humans vary substantially in their willingness to take risks. In a combined sample of over 1
million individuals, we conducted genome-wide association studies (GWAS) of general risk …

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

AF Pardiñas, P Holmans, AJ Pocklington… - Nature …, 2018 - nature.com
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …

[PDF][PDF] The neuronal gene arc encodes a repurposed retrotransposon gag protein that mediates intercellular RNA transfer

ED Pastuzyn, CE Day, RB Kearns, M Kyrke-Smith… - Cell, 2018 - cell.com
The neuronal gene Arc is essential for long-lasting information storage in the mammalian
brain, mediates various forms of synaptic plasticity, and has been implicated in …

Schizophrenia risk from complex variation of complement component 4

A Sekar, AR Bialas, H De Rivera, A Davis… - Nature, 2016 - nature.com
Schizophrenia is a heritable brain illness with unknown pathogenic mechanisms.
Schizophrenia's strongest genetic association at a population level involves variation in the …