Comprehensive genome analysis and variant detection at scale using DRAGEN
Research and medical genomics require comprehensive, scalable methods for the
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …
A population-specific reference panel for improved genotype imputation in African Americans
There is currently a dearth of accessible whole genome sequencing (WGS) data for
individuals residing in the Americas with Sub-Saharan African ancestry. We generated …
individuals residing in the Americas with Sub-Saharan African ancestry. We generated …
Exploring the genetic architecture of spontaneous coronary artery dissection using whole-genome sequencing
Background: Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary
syndrome that predominantly affects women. Its pathophysiology remains unclear but …
syndrome that predominantly affects women. Its pathophysiology remains unclear but …
Very low-depth whole-genome sequencing in complex trait association studies
Motivation Very low-depth sequencing has been proposed as a cost-effective approach to
capture low-frequency and rare variation in complex trait association studies. However, a full …
capture low-frequency and rare variation in complex trait association studies. However, a full …
Benchmarking relatedness inference methods with genome-wide data from thousands of relatives
Relatedness inference is an essential component of many genetic analyses and popular in
consumer genetic testing. Ramstetter et al. evaluate twelve..... Inferring relatedness from …
consumer genetic testing. Ramstetter et al. evaluate twelve..... Inferring relatedness from …
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
Congenital heart disease (CHD) is the most common birth defect and brings with it
significant mortality and morbidity. The application of exome and genome sequencing has …
significant mortality and morbidity. The application of exome and genome sequencing has …
Falciparum malaria from coastal Tanzania and Zanzibar remains highly connected despite effective control efforts on the archipelago
Abstract Background Tanzania's Zanzibar archipelago has made significant gains in malaria
control over the last decade and is a target for malaria elimination. Despite consistent …
control over the last decade and is a target for malaria elimination. Despite consistent …
Polygenic Risk in Families With Spontaneous Coronary Artery Dissection
Importance Spontaneous coronary artery dissection (SCAD) is a poorly understood cause of
acute coronary syndrome that predominantly affects women. Evidence to date suggests a …
acute coronary syndrome that predominantly affects women. Evidence to date suggests a …
Evaluating the impact of dropout and genoty** error on SNP-based kinship analysis with forensic samples
Technological advances in sequencing and single nucleotide polymorphism (SNP)
genoty** microarray technology have facilitated advances in forensic analysis beyond …
genoty** microarray technology have facilitated advances in forensic analysis beyond …
Population structure and inbreeding in wild house mice (Mus musculus) at different geographic scales
House mice (Mus musculus) have spread globally as a result of their commensal
relationship with humans. In the form of laboratory strains, both inbred and outbred, they are …
relationship with humans. In the form of laboratory strains, both inbred and outbred, they are …