Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2

K Suryamohan, D Diwanji, EW Stawiski… - Communications …, 2021 - nature.com
COVID-19 is a respiratory illness caused by a novel coronavirus called SARS-CoV-2. The
viral spike (S) protein engages the human angiotensin-converting enzyme 2 (ACE2) …

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 …

Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters

BM Javierre, OS Burren, SP Wilder, R Kreuzhuber… - Cell, 2016 - cell.com
Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …

A reference panel of 64,976 haplotypes for genotype imputation

Nature genetics, 2016 - nature.com
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs
constructed using whole-genome sequence data from 20 studies of predominantly …

PhenoScanner: a database of human genotype–phenotype associations

JR Staley, J Blackshaw, MA Kamat, S Ellis… - …, 2016 - academic.oup.com
PhenoScanner is a curated database of publicly available results from large-scale genetic
association studies. This tool aims to facilitate 'phenome scans', the cross-referencing of …

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

LG Fritsche, W Igl, JNC Bailey, F Grassmann… - Nature …, 2016 - nature.com
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …

Genome-wide patterns of selection in 230 ancient Eurasians

I Mathieson, I Lazaridis, N Rohland, S Mallick… - Nature, 2015 - nature.com
Ancient DNA makes it possible to observe natural selection directly by analysing samples
from populations before, during and after adaptation events. Here we report a genome-wide …

Genotype imputation with millions of reference samples

BL Browning, SR Browning - The American Journal of Human Genetics, 2016 - cell.com
We present a genotype imputation method that scales to millions of reference samples. The
imputation method, based on the Li and Stephens model and implemented in Beagle v. 4.1 …

The MHC locus and genetic susceptibility to autoimmune and infectious diseases

V Matzaraki, V Kumar, C Wijmenga, A Zhernakova - Genome biology, 2017 - Springer
In the past 50 years, variants in the major histocompatibility complex (MHC) locus, also
known as the human leukocyte antigen (HLA), have been reported as major risk factors for …

Two-sample Mendelian randomization: avoiding the downsides of a powerful, widely applicable but potentially fallible technique

FP Hartwig, NM Davies, G Hemani… - International journal …, 2016 - academic.oup.com
Mendelian randomization studies are often performed in an instrumental variables
framework, using germline genetic variants as instruments for modifiable disease risk factors …