Author

Michael G. Parfenov

Harvard University

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Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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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

Frequent Co-Authors

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

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Andrew J. SharpORCID

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1 paper

Recent·Most cited

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

Kathryn B. Manheimer, Nihir Patel, Felix Richter, Joshua Gorham, Angela C. Tai, Jason G. Homsy, Marko T. Boskovski, Michael G. Parfenov, Elizabeth Goldmuntz, Wendy K. Chung, Martina K. Brueckner, Martin Tristani‐Firouzi, Deepak Srivastava, Jonathan G. Seidman, Christine E. Seidman, , 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.

Human Mutation · Mar 11, 2018Peer-reviewedGenetics