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 …
From variant to function in human disease genetics
T Lappalainen, DG MacArthur - Science, 2021 - science.org
Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …
biological mechanisms by which genetic variants influence phenotypes, including disease …
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 …
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 …
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 …
A new method for multiancestry polygenic prediction improves performance across diverse populations
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …
performance in non-European populations raise concerns about clinical applications and …
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 …
Leveraging fine-map** and multipopulation training data to improve cross-population polygenic risk scores
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …
health disparities. We propose PolyPred, a method that improves cross-population …