A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
… meta-analysis of data from multiple GWAS studies 41,42,43 . … of large cohorts, human genetics
has deployed increasingly … mapping the genetic factors that underlie traits and diseases. …

Using human genetics to understand the disease impacts of testosterone in men and women

KS Ruth, FR Day, J Tyrrell, DJ Thompson, AR Wood… - Nature medicine, 2020 - nature.com
… analyses, both in the discovery of genetic variants for sex hormone traits and in the analyses
of downstream traits. The apparently sex-divergent effects of testosterone on T2D were …

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag… - Nature, 2021 - nature.com
… Focusing on rarer PTVs (MAF < 1%), we observed that 95% of genes had at least one
heterozygous PTV carrier, 42% had at least one compound heterozygous or homozygous/…

The genetics of human ageing

D Melzer, LC Pilling, L Ferrucci - Nature Reviews Genetics, 2020 - nature.com
Understanding the genetic factors driving this variability in ageing between … in human ageing
is limited and conventional observational studies are often distorted by confounding factors

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

AR Harper, A Goel, C Grace, KL Thomson… - … genetics, 2021 - nature.com
… To assess the shared genetic effects between sarcomere-positive and sarcomere-negative
HCM at individual loci, pairwise GWAS calculated the probability that a variant located within …

Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis

, … of the Psychiatric Genetics Consortium Meier Sandra … - … genetics, 2022 - nature.com
… four broad factors that index shared genetic liability within and … We then evaluate the utility
of these factors using a multistep … genetic enrichment of variance in psychiatric genetic factors

Large-scale association analyses identify host factors influencing human gut microbiome composition

A Kurilshikov, C Medina-Gomez, R Bacigalupe… - … genetics, 2021 - nature.com
… microbiome trait loci (mbTL) mapping to identify genetic loci … trait loci, or mbQTLs) or presence
(microbiome binary trait loci… interpretation of GWAS findings through gene-set enrichment …

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
… the nomination of disease genes and drug candidates by incorporating gene and protein
expression data and providing insight into the underlying biology of human diseases and traits. …

Genome-wide associations of human gut microbiome variation and implications for causal inference analyses

DA Hughes, R Bacigalupe, J Wang… - Nature …, 2020 - nature.com
… 52 framework for identification of regulatory and tissue enrichments. Because this analysis
uses the complete GWAS dataset of a trait, pooling of data from multiple traits, as done above, …

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

E Mountjoy, EM Schmidt, M Carmona… - … genetics, 2021 - nature.com
… -trait colocalization … traits and diseases that share common genetic etiology and mechanisms.
To investigate whether changes in gene expression and protein abundance influence trait