Author

Jennifer Yen

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Genomics· 1

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Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

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Aldrin Montana· 1 shared Deanna M Church· 1 shared Jason HarrisiD· 1 shared John West· 1 shared Richard CheniD· 1 shared Sarah Garcia· 1 shared Steven Chervitz· 1 shared

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2017-2017 · peak 1/yr

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1 shared paperGenomics

Aldrin Montana

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1 paper

Recent·Most cited

GenomicsGenome MedicinePeer-reviewedJan 26, 2017

A variant by any name: quantifying annotation discordance across tools and clinical databases

Jennifer Yen, Sarah Garcia, Aldrin Montana…·Deanna M Church

This study evaluates variant annotation consistency across tools and databases, finding significant discordance in variant descriptions, particularly for insertions and deletions.

DOI 10.1186/s13073-016-0396-7

GWAS summary statisticsstatistical model

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