AgileExomeFilter 20150610 – Identification of Pathogenic Sequence Variants within Exome data annotated by Alamut-HT

AgileExomeFilter 20150610

:: DESCRIPTION

AgileExomeFilter enables the rapid filtering, screening and sorting of variants derived from an exome sequencing experiment, to allow the rapid detection of possible deleterious variants.

::DEVELOPER

Leeds Institute of Molecular Medicine

:: SCREENSHOTS

:: REQUIREMENTS

  • Windows
  • Microsoft .NET framework version 2.0 

:: DOWNLOAD

  AgileExomeFilter

:: MORE INFORMATION

Citation

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Watson CM, Crinnion LA, Morgan JE, Harrison SM, Diggle CP, Adlard J, Lindsay HA, Camm N, Charlton R, Sheridan E, Bonthron DT, Taylor GR, Carr IM.
Hum Mutat. 2014 Apr;35(4):434-41. doi: 10.1002/humu.22490.