[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 …

Where are the disease-associated eQTLs?

BD Umans, A Battle, Y Gilad - Trends in Genetics, 2021 - cell.com
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …

Update on NAFLD genetics: from new variants to the clinic

E Trépo, L Valenti - Journal of hepatology, 2020 - Elsevier
Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …

[PDF][PDF] Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes

DM Ruderfer, S Ripke, A McQuillin, J Boocock… - Cell, 2018 - cell.com
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology.
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …

Statistical inference in two-sample summary-data Mendelian randomization using robust adjusted profile score

Q Zhao, J Wang, G Hemani, J Bowden, DS Small - 2020 - projecteuclid.org
Statistical inference in two-sample summary-data Mendelian randomization using robust
adjusted profile score Page 1 The Annals of Statistics 2020, Vol. 48, No. 3, 1742–1769 https://doi.org/10.1214/19-AOS1866 …

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 …

Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications

X Zhu, W Bai, H Zheng - Bone research, 2021 - nature.com
Osteoporosis is a common skeletal disease, affecting~ 200 million people around the world.
As a complex disease, osteoporosis is influenced by many factors, including diet (eg calcium …

Environment dominates over host genetics in shaping human gut microbiota

D Rothschild, O Weissbrod, E Barkan, A Kurilshikov… - Nature, 2018 - nature.com
Human gut microbiome composition is shaped by multiple factors but the relative
contribution of host genetics remains elusive. Here we examine genotype and microbiome …

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

HK Finucane, YA Reshef, V Anttila, K Slowikowski… - Nature …, 2018 - nature.com
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …

[PDF][PDF] Trans effects on gene expression can drive omnigenic inheritance

X Liu, YI Li, JK Pritchard - Cell, 2019 - cell.com
Early genome-wide association studies (GWASs) led to the surprising discovery that, for
typical complex traits, most of the heritability is due to huge numbers of common variants …