Author

Kathryn B. Manheimer

Icahn School of Medicine at Mount SinaiORCID 0000-0003-0421-5773Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Angela C. Tai· 2 shared Bruce D. GelbiD· 2 shared Christine E. SeidmaniD· 2 shared Deepak SrivastavaiD· 2 shared Elizabeth GoldmuntziD· 2 shared Jonathan G. SeidmaniD· 2 shared Joshua GorhamiD· 2 shared Martin Tristani‐FirouziiD· 2 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersBioinformatics

Angela C. Tai

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2 papers

Recent·Most cited

BioinformaticsbioRxivPreprintAug 13, 2019

Early post-zygotic mutations contribute to congenital heart disease

Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox…·Yufeng Shen

The paper identifies mosaic mutations in blood and cardiac tissue from CHD patients, finding 1% of cases have detectable mosaic variants that may contribute to congenital heart disease.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

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

𝕏 PostBluesky