Author

Thomas Willems

New York Genome CenterORCID 0000-0002-7504-8952Unclaimed ORCID profile · follow to get notified of new preprints

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Thomas Willems1 paper

Biology Disciplines

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Genomics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:eQTL / molecular QTL mapping· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Melissa GymrekiD· 3 shared Yaniv ErlichiD· 3 shared Alkes L Price· 1 shared Assaf Gordon· 1 shared Barak Markus· 1 shared David ReichiD· 1 shared Dina ZielinskiiD· 1 shared Haoyang Zeng· 1 shared

Activity by Year

2016-2017 · peak 2/yr

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10 top collaborators · 28 mutual co-author links

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3 shared papersGenomics

Melissa GymrekORCID

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3 papers

Recent·Most cited

GeneticsNature GeneticsPeer-reviewedSep 11, 2017

Interpreting short tandem repeat variations in humans using mutational constraint

Melissa Gymrek, Thomas Willems, David Reich, Yaniv Erlich

The paper estimates mutation parameters for human STRs by correlating genotypes with sequence heterozygosity and uses constraint scores to identify pathogenic variants.

94 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsbioRxivSep 27, 2016

Genome-wide profiling of heritable and de novo STR variations

Thomas Willems, Dina Zielinski, Assaf Gordon…·Yaniv Erlich

This study introduces HipSTR, a haplotype-based method for genotyping STRs and reports genome-wide analysis of de novo STR mutations.

DOI 10.1038/nmeth.4267

whole-genome sequencingstatistical model

𝕏 PostBluesky

GenomicsNature GeneticsPeer-reviewedJan 1, 2016

Abundant contribution of short tandem repeats to gene expression variation in humans

Melissa Gymrek, Thomas Willems, Haoyang Zeng…·Yaniv Erlich

The paper identifies 2,060 expression STRs (eSTRs) contributing 10%-15% of cis-heritability to gene expression, highlighting their role as regulatory variants.

DOI 10.1038/ng.3461

humanbulk RNA-seq

𝕏 PostBluesky