Author

Ivan Iossifov

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 3 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Research Focus:variant calling· 5 Assay:whole-genome sequencing· 4 Assay:whole-exome sequencing· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Approach:deep learning· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Han FangiD· 4 shared Yiyang Wu· 4 shared Giuseppe NarzisiiD· 3 shared Michael Wigler· 3 shared Zihua Wang· 3 shared Gholson J. LyoniD· 2 shared Jason A O'Rawe· 2 shared Julie Rosenbaum· 2 shared

Activity by Year

2014-2016 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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4 shared papersBioinformatics

Han FangORCID

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Author profile →

5 papers

Recent·Most cited

Indel variant analysis of short-read sequencing data with Scalpel

Han Fang, Ewa A. Grabowska, Kanika Arora, Vladimir Vacic, Michael C. Zody, Ivan Iossifov, Jason A. ORawe, Yiyang Wu, Laura T Jimenez Barron, Julie Rosenbaum, Michael Ronemus, Yoon-ha Lee, Zihua Wang, Gholson J. Lyon, Michael Wigler, , Giuseppe Narzisi

This paper introduces Scalpel, an open-source tool for accurate indel detection from short-read sequencing data, and demonstrates its application in various analysis modes.

Nature Protocols · Nov 17, 2016Peer-reviewedBioinformatics

MUMdex: MUM-based structural variation detection

Peter A. Andrews, Ivan Iossifov, Jude Kendall, Steven Marks, Lakshmi Muthuswamy, Zihua Wang, Dan Levy, Michael Wigler

MUMdex detects structural variations by analyzing maximal unique matches, demonstrating accuracy in simulated and real human genome data.

bioRxiv · Sep 30, 2016 · PreprintGenomics

Genome Wide Variant Analysis of Simplex Autism Families with an Integrative Clinical-Bioinformatics Pipeline

Laura T Jiménez-Barrón, Jason A O'Rawe, Yiyang Wu, Margaret Yoon, Han Fang, Ivan Iossifov, Gholson Lyon

This study uses an integrative clinical-bioinformatics pipeline to analyze genome-wide variants in simplex autism families, identifying candidate variants associated with ASD.

bioRxiv · May 11, 2015Genetics

Reducing INDEL calling errors in whole-genome and exome sequencing data

Han Fang, Yiyang Wu, Giuseppe Narzisi, Jason A. O'Rawe, Laura T. Jimenez Barrón, Julie Rosenbaum, Michael Ronemus, Ivan Iossifov, Michael C. Schatz, Gholson J. Lyon

This study identifies sources of INDEL calling errors in sequencing data and shows that whole-genome sequencing (WGS) outperforms whole-exome sequencing (WES) in accuracy and sensitivity for detecting INDELs.

bioRxiv · Sep 17, 2014Bioinformatics

Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

Giuseppe Narzisi, Jason A O'Rawe, Ivan Iossifov, Han Fang, Yoon-ha Lee, Zihua Wang, Yiyang Wu, Gholson J Lyon, Michael Wigler, Michael C Schatz

Scalpel detects de novo and transmitted INDELs in exome data with high specificity and sensitivity, outperforming existing tools in challenging repeat regions and identifying new autism-related genes.

Nature Methods · Aug 17, 2014Peer-reviewedBioinformatics