Genetic variation across and within individuals
Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …
human traits and disease risks. Germline variants are present from conception, but they vary …
Genetics of Parkinson's disease: an introspection of its journey towards precision medicine
ABSTRACT A substantial proportion of risk for Parkinson's disease (PD) is driven by
genetics. Progress in understanding the genetic basis of PD has been significant. So far …
genetics. Progress in understanding the genetic basis of PD has been significant. So far …
Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation
Sequence-based machine-learning models trained on genomics data improve genetic
variant interpretation by providing functional predictions describing their impact on the cis …
variant interpretation by providing functional predictions describing their impact on the cis …
Map** the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 … - Nature, 2021 - nature.com
The genetic make-up of an individual contributes to the susceptibility and response to viral
infection. Although environmental, clinical and social factors have a role in the chance of …
infection. Although environmental, clinical and social factors have a role in the chance of …
Effective gene expression prediction from sequence by integrating long-range interactions
How noncoding DNA determines gene expression in different cell types is a major unsolved
problem, and critical downstream applications in human genetics depend on improved …
problem, and critical downstream applications in human genetics depend on improved …
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …
statistics, which can be used to gain insight into complex human traits by downstream …
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways
Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
Adjusting for genetic confounders in transcriptome-wide association studies improves discovery of risk genes of complex traits
Many methods have been developed to leverage expression quantitative trait loci (eQTL)
data to nominate candidate genes from genome-wide association studies. These methods …
data to nominate candidate genes from genome-wide association studies. These methods …
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …
attempts to elucidate biological mechanisms are impeded by an inability to discern which …