Please note that this software is no longer being supported or updated.
The analysis of variants generated by exome sequencing 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 , for analyzing the DNA sequence variants produced by human exome sequencing. VAR-MD generates a ranked list of variants using predicted pathogenicity, Mendelian inheritance models, genotype quality and population variant frequency data.
VAR-MD has the potential to enhance mutation identification using family-based, annotated next generation sequencing data. We predict an incremental advancement in software performance as the reference databases, such as dbSNP and HGMD, continue to improve.
Last Modified: Monday, 23-Feb-2015 11:29:15 EST