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) …
viral spike (S) protein engages the human angiotensin-converting enzyme 2 (ACE2) …
Environment dominates over host genetics in shaping human gut microbiota
Human gut microbiome composition is shaped by multiple factors but the relative
contribution of host genetics remains elusive. Here we examine genotype and microbiome …
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 …
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 …
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 …
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
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 …
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
Genome-wide patterns of selection in 230 ancient Eurasians
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 …
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 …
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
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 …
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
Mendelian randomization studies are often performed in an instrumental variables
framework, using germline genetic variants as instruments for modifiable disease risk factors …
framework, using germline genetic variants as instruments for modifiable disease risk factors …