Author

Michael G. Parfenov

Harvard University

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

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Andrew J. SharpiD· 1 shared Angela C. Tai· 1 shared Bruce D. GelbiD· 1 shared Christine E. SeidmaniD· 1 shared Deepak SrivastavaiD· 1 shared Elizabeth GoldmuntziD· 1 shared Felix RichteriD· 1 shared Jason G. Homsy· 1 shared

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Andrew J. SharpORCID

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1 paper

Recent·Most cited

GeneticsHuman MutationPeer-reviewedMar 11, 2018

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors

Kathryn B. Manheimer, Nihir Patel, Felix Richter…·Andrew J. Sharp

The paper introduces MEM, a method to identify deletion CNVs in WES and WGS trio data by clustering Mendelian errors, achieving high validation rates and detecting additional de novo deletions and contamination.

5 citations

humanwhole-exome sequencing

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