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Article

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Human mutation - 1 Apr 2012

Sincan Murat, Simeonov Dimitre R, Adams David, Markello Thomas C, Pierson Tyler M, Toro Camilo, Gahl William A, Boerkoel Cornelius F

Abstract excerpt

The analysis of variants generated by exome sequencing (ES) of families with rare Mendelian diseases is a time-consuming, manual process that represents one barrier to applying the technology routinely. To address this issue, we have developed a software tool, VAR-MD (http://research.nhgri.nih.gov/software/var-md/), for analyzing the DNA sequence variants produced by human ES. VAR-MD generates a ranked list of...

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PMID: 22290570
DOI: 10.1002/humu.22034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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