Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
Cloud computing for genomic data analysis and collaboration
B Langmead, A Nellore - Nature Reviews Genetics, 2018 - nature.com
Next-generation sequencing has made major strides in the past decade. Studies based on
large sequencing data sets are growing in number, and public archives for raw sequencing …
large sequencing data sets are growing in number, and public archives for raw sequencing …
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome
The levels of the thousands of metabolites in the human plasma metabolome are strongly
influenced by an individual's genetics and the composition of their diet and gut microbiome …
influenced by an individual's genetics and the composition of their diet and gut microbiome …
Single-cell RNA-seq reveals cell type–specific molecular and genetic associations to lupus
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease. Knowledge
of circulating immune cell types and states associated with SLE remains incomplete. We …
of circulating immune cell types and states associated with SLE remains incomplete. We …
A single-cell atlas of human and mouse white adipose tissue
MP Emont, C Jacobs, AL Essene, D Pant, D Tenen… - Nature, 2022 - nature.com
White adipose tissue, once regarded as morphologically and functionally bland, is now
recognized to be dynamic, plastic and heterogenous, and is involved in a wide array of …
recognized to be dynamic, plastic and heterogenous, and is involved in a wide array of …