A framework for enhancing ethical genomic research with Indigenous communities
Integration of genomic technology into healthcare settings establishes new capabilities to
predict disease susceptibility and optimize treatment regimes. Yet, Indigenous peoples …
predict disease susceptibility and optimize treatment regimes. Yet, Indigenous peoples …
ANGSD: analysis of next generation sequencing data
Background High-throughput DNA sequencing technologies are generating vast amounts of
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …
[HTML][HTML] Million Veteran Program: A mega-biobank to study genetic influences on health and disease
Objective To describe the design and ongoing conduct of the Million Veteran Program
(MVP), as an observational cohort study and mega-biobank in the Department of Veterans …
(MVP), as an observational cohort study and mega-biobank in the Department of Veterans …
Multiple causal variants underlie genetic associations in humans
Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
New genetic loci link adipose and insulin biology to body fat distribution
D Shungin, TW Winkler, DC Croteau-Chonka… - Nature, 2015 - nature.com
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic
outcomes, independent of overall adiposity. To increase our understanding of the genetic …
outcomes, independent of overall adiposity. To increase our understanding of the genetic …
RNA sequencing and analysis
KR Kukurba, SB Montgomery - Cold Spring Harbor Protocols, 2015 - cshprotocols.cshlp.org
RNA sequencing (RNA-Seq) uses the capabilities of high-throughput sequencing methods
to provide insight into the transcriptome of a cell. Compared to previous Sanger sequencing …
to provide insight into the transcriptome of a cell. Compared to previous Sanger sequencing …
[HTML][HTML] Analysis of human sequence data reveals two pulses of archaic Denisovan admixture
Anatomically modern humans interbred with Neanderthals and with a related archaic
population known as Denisovans. Genomes of several Neanderthals and one Denisovan …
population known as Denisovans. Genomes of several Neanderthals and one Denisovan …
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
Abstract Type 2 diabetes (T2D) is a very common disease in humans. Here we conduct a
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
meta-analysis of genome-wide association studies (GWAS) with~ 16 million genetic variants …
Use of> 100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare …
MH Kowalski, H Qian, Z Hou, JD Rosen, AL Tapia… - PLoS …, 2019 - journals.plos.org
Most genome-wide association and fine-mapping studies to date have been conducted in
individuals of European descent, and genetic studies of populations of Hispanic/Latino and …
individuals of European descent, and genetic studies of populations of Hispanic/Latino and …