Genescreen

About this program

This program is designed to speed up the detection and annotation of rare sequence variants, which while been a simple task is a tedious and error prone when done manually especially when analysing large volumes of data.

The program will accept sequence data from ABI electropherogram files which it aligns to a reference sequence. This can be either a plain text file or an annotated file created by Genescreen. When using an annotated reference file Genescreen will calculate a sequence variants' position in the cDNA, genomic and where appropriate the protein sequences.

Selected variants can then be exported to a tab-delimited text file, an LOVD import template file or a web page. Genescreen will also act as a web page editor and so allow it to act as both a static web page and a simple sequence variant database

This program and its instruction file is currently hosted on mirror of my old department web site and can obtained from here. A copy of the user guide is also kept on this site here.

Citation

Carr IM, Camm N, Taylor GR, Charlton R, Ellard S, Sheridan EG, Markham AF, Bonthron DT
GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
Journal of Medical Genetics. Accepted Sept 2010

Computer requirements

This program runs on Microsoft Windows, using the .NET 2.0 environment which can be obtained from here.