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UnknownLarge-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes.
Genome-wide association studies (GWAS) aim to identify genetic factors associated with phenotypes. Standard analyses test variants for associations individually. However, variant-level associations are hard to identify and can be difficult to interpret biologically. Enrichment analyses help address ...
S-EPMC6195536 | biostudies-literature
UnknownModeling regulatory network topology improves genome-wide analyses of complex human traits.
Genome-wide association studies (GWAS) have cataloged many significant associations between genetic variants and complex traits. However, most of these findings have unclear biological significance, because they often have small effects and occur in non-coding regions. Integration of GWAS with gene ...
S-EPMC8121952 | biostudies-literature
UnknownGenetic effects of sequence-conserved enhancer-like elements on human complex traits.

Background

The vast majority of findings from human genome-wide association studies (GWAS) map to non-coding sequences, complicating their mechanistic interpretations and clinical translations. Non-coding sequences that are evolutionarily conserved and biochemically active could offer clues ...
S-EPMC10759394 | biostudies-literature
UnknownAssessing three-decade HIV testing transformation: TOPSIS-radar evaluation of tiered health system performance in rural-urban Southwestern China.

Background

China's expanded HIV testing program (since 2015) necessitates longitudinal evaluation of healthcare institution (HCI) performance, which provides critical evidence to enhance the precision and effectiveness of focused testing interventions, to optimize service delivery.

Method...

S-EPMC12751608 | biostudies-literature
UnknownA multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulator...
S-EPMC9388392 | biostudies-literature
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