MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels | Zendy

Tobias Marschall | Zendy; Iman Hajirasouliha | Zendy; Alexander Schönhuth | Zendy

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MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels

Author(s) -

Tobias Marschall,

Iman Hajirasouliha,

Alexander Schönhuth

Publication year - 2013

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btt556

Subject(s) - indel , genotyping , mendelian inheritance , indel mutation , inheritance (genetic algorithm) , genetics , 1000 genomes project , computational biology , computer science , biology , gene , genotype , single nucleotide polymorphism

Accurately predicting and genotyping indels longer than 30 bp has remained a central challenge in next-generation sequencing (NGS) studies. While indels of up to 30 bp are reliably processed by standard read aligners and the Genome Analysis Toolkit (GATK), longer indels have still resisted proper treatment. Also, discovering and genotyping longer indels has become particularly relevant owing to the increasing attention in globally concerted projects.

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