scispace - formally typeset
R

R. Mathias

Researcher at Johns Hopkins University

Publications -  7
Citations -  15918

R. Mathias is an academic researcher from Johns Hopkins University. The author has contributed to research in topics: Human genetic variation & Genome-wide association study. The author has an hindex of 3, co-authored 7 publications receiving 10786 citations. Previous affiliations of R. Mathias include Icahn School of Medicine at Mount Sinai.

Papers
More filters
Journal ArticleDOI

A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.

A global reference for human genetic variation

Adam Auton, +479 more
TL;DR: The 1000 Genomes Project as mentioned in this paper provided a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and reported the completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole genome sequencing, deep exome sequencing and dense microarray genotyping.
Posted ContentDOI

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

Tetsushi Nakao, +134 more
- 01 Mar 2021 - 
TL;DR: In this article, the authors investigated the relationship between CHIP, LTL, and CAD in Trans-Omics for Precision Medicine (TOPMed) program (N=63,302) and UK Biobank (n=48,658).

An integrated map of structural variation in 2,504 human genomes_supplement

Sudmant Ph, +494 more
TL;DR: An integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which are constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations are described.