Introduction

Exome and whole-genome analyses powered by next-generation sequencing (NGS) have become invaluable tools in identifying causal mutations responsible for Mendelian disorders. Given that individual exomes contain several thousand single nucleotide variants and insertions/deletions, it remains a challenge to analyze large numbers of variants from multiple exomes to identify causal alleles associated with inherited conditions. To this end, we have developed user-friendly software that analyzes variant calls from multiple individuals to facilitate identification of causal mutations. The software, termed exomeSuite, filters for putative causative variants of monogenic diseases inherited in one of three forms: dominant, recessive caused by a homozygous variant, or recessive caused by two compound heterozygous variants. In addition, exomeSuite can perform homozygosity mapping and analyze the variant data of multiple unrelated individuals. Here we demonstrate that filtering of variants with exomeSuite reduces datasets to a fraction of a percent of their original size. To the best of our knowledge this is the first freely available software developed to analyze variant data from multiple individuals that rapidly assimilates and filters large data sets based on pattern of inheritance.

Publications

  1. exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
    Cite this
    Maranhao B, Biswas P, Duncan JL, Branham KE, Silva GA, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Heckenlively JR, Riazuddin SA, Lee PL, Ayyagari R, 2014-02-01 - Genomics

Credits

  1. B Maranhao
    Developer

    Department of Ophthalmology, University of California

  2. P Biswas
    Developer

    Department of Ophthalmology, University of California

  3. J L Duncan
    Developer

    Department of Ophthalmology, University of California San Francisco

  4. K E Branham
    Developer

    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School

  5. G A Silva
    Developer

    Department of Ophthalmology, University of California

  6. M A Naeem
    Developer

    National Centre of Excellence in Molecular Biology, University of the Punjab, United States of America

  7. S N Khan
    Developer

    National Centre of Excellence in Molecular Biology, University of the Punjab, United States of America

  8. S Riazuddin
    Developer

    National Centre of Excellence in Molecular Biology, University of the Punjab, United States of America

  9. J F Hejtmancik
    Developer

    Ophthalmic Genetics and Visual Function Branch, National Institutes of Health

  10. J R Heckenlively
    Developer

    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School

  11. S A Riazuddin
    Developer

    National Centre of Excellence in Molecular Biology, University of the Punjab, United States of America

  12. P L Lee
    Developer

    Department of Ophthalmology, University of California

  13. R Ayyagari
    Investigator

    Department of Ophthalmology, University of California

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Summary
AccessionBT000080
Tool TypeApplication
Category
PlatformsLinux/Unix
TechnologiesC++
User InterfaceTerminal Command Line
Download Count0
Submitted ByR Ayyagari