PLoS One: Filtering for Compound Heterozygous Sequence Variants at GeneTalk

Knaus

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PLoS One: Filtering for Compound Heterozygous Sequence Variants at GeneTalk

08-07-2013, 01:35 AM

T. Kamphans, P. Krawitz et al. published an article in PLoS One about how filtering for compund heterozygous sequence variants works in GeneTalk

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0070151

The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. We developed a web-based compound heterozygous filter that is suited for data from NGS projects and that is easy to use for non-bioinformaticians. We analyzed the power of compound heterozygous mutation filtering by deriving background distributions for healthy individuals from different ethnicities and studied the effectiveness in trios as well as more complex pedigree structures. While usually more then 30 genes harbor potential compound heterozygotes in single exomes, this number can be markedly reduced with every additional member of the pedigree that is included in the analysis. In a real data set with exomes of four family members, two sisters affected by Mabry syndrome and their healthy parents, the disease-causing gene PIGO, which harbors the pathogenic compound heterozygous variants, could be readily identified. Compound heterozygous filtering is an efficient means to reduce the number of candidate mutations in studies aiming at identifying recessive disease genes in non-consanguineous families. A web-server is provided to make this filtering strategy available at www.gene-talk.de.

Comments and reviews are appreciated.

You are also very welcome to visit www.gene-talk.de and test the filter tool as well as the platform.

Analyze Human Sequence Variants
www.gene-talk.de
Tags: compound heterozygosity, filtering, sequece variants, variant analysis, variant filtering
Knaus

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Join Date: May 2013

Posts: 18
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12-13-2013, 02:16 AM

for any of you that do not want to read the entire paper, I have a short white paper here:

https://www.gene-talk.de/public/Gene...er_CompHet.pdf

Analyze Human Sequence Variants
www.gene-talk.de
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PLoS One: Filtering for Compound Heterozygous Sequence Variants at GeneTalk

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