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Science (New York, N.Y.)|May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptomeManuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Science (New York, N.Y.)|September 11, 2020
The impact of sex on gene expression across human tissuesMeritxell Oliva, Manuel Muñoz-Aguirre, Sarah Kim-Hellmuth, et al.
Nature Genetics|April 19, 2011
Genome-wide association study identifies a common variant associated with risk of endometrial cancerAmanda B Spurdle, Deborah J Thompson, Shahana Ahmed, et al.
Nature Genetics|September 4, 2012
Mapping cis- and trans-regulatory effects across multiple tissues in twinsElin Grundberg, Kerrin S Small, Åsa K Hedman, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variationJonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
Genome Research|October 2, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variationJonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
Science (New York, N.Y.)|February 21, 2012
A systematic survey of loss-of-function variants in human protein-coding genesDaniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, et al.
Cell|November 2, 2019
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in AfricaDeepti Gurdasani, Tommy Carstensen, Segun Fatumo, et al.
Nature|September 17, 2013
Transcriptome and genome sequencing uncovers functional variation in humansTuuli Lappalainen, Michael Sammeth, Marc R Friedländer, et al.
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