Concepedia

Monkol Lek

ML

100

Publications

20.9K

Citations

55

H-Index

2001

Active since

Affiliations

Broad Institute(Current)

Massachusetts General Hospital

Harvard University

Yale University

Murdoch Children's Research Institute

Monkol Lek is an author at Broad Institute specializing in medicine, genetics, and genomics.

ORCID

Top concepts

Publications per year

2001–2024

100

Publications

100

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie, David S. DeLuca, Ayellet V. Segrè et al. · Science · 2015 · 5.5K citations · Full text

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen, Michael Sammeth, Marc R. Friedländer et al. · Nature · 2013 · 2.1K citations · Full text

, , +4

Scaling accurate genetic variant discovery to tens of thousands of samples

Ryan Poplin, Valentín Ruano-Rubio, Mark A. DePristo et al. · 2017 · 2K citations · Full text

, , +21

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Alvaro Barbeira, Scott Dickinson, Rodrigo Bonazzola et al. · Nature Communications · 2018 · 1.2K citations · Full text

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

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