MOTIVATION: Runs of homozygosity (ROH) are sizable chromosomal stretches of homozygous genotypes, ranging in length from tens of kilobases to megabases. ROHs can be relevant for population and medical genetics, playing a role in predisposition to both rare and common disorders. ROHs are commonly detected by single nucleotide polymorphism (SNP) microarrays, but attempts have been made to use whole-exome sequencing (WES) data. Currently available methods developed for the analysis of uniformly spaced SNP-array maps do not fit easily to the analysis of the sparse and non-uniform distribution of the WES target design. RESULTS: To meet the need of an approach specifically tailored to WES data, we developed [Formula: see text], an original algorithm based on heterogeneous hidden Markov model that incorporates inter-marker distances to detect ROH from WES data. We evaluated the performance of [Formula: see text] to correctly identify ROHs on synthetic chromosomes and examined its accuracy in detecting ROHs of different length (short, medium and long) from real 1000 genomes project data. [Formula: see text] turned out to be more accurate than GERMLINE and PLINK, two state-of-the-art algorithms, especially in the detection of short and medium ROHs.

H3M2: detection of runs of homozygosity from whole-exome sequencing data / Magi A;Tattini L;Palombo F;Benelli M;Gialluisi A;Giusti B;Abbate R;Seri M;Gensini GF;Romeo G;Pippucci T. - In: BIOINFORMATICS. - ISSN 1367-4803. - STAMPA. - 30:(2014), pp. 2852-2859. [10.1093/bioinformatics/btu401]

H3M2: detection of runs of homozygosity from whole-exome sequencing data.

MAGI, ALBERTO;TATTINI, LORENZO;Benelli M;GIUSTI, BETTI;ABBATE, ROSANNA;GENSINI, GIAN FRANCO;
2014

Abstract

MOTIVATION: Runs of homozygosity (ROH) are sizable chromosomal stretches of homozygous genotypes, ranging in length from tens of kilobases to megabases. ROHs can be relevant for population and medical genetics, playing a role in predisposition to both rare and common disorders. ROHs are commonly detected by single nucleotide polymorphism (SNP) microarrays, but attempts have been made to use whole-exome sequencing (WES) data. Currently available methods developed for the analysis of uniformly spaced SNP-array maps do not fit easily to the analysis of the sparse and non-uniform distribution of the WES target design. RESULTS: To meet the need of an approach specifically tailored to WES data, we developed [Formula: see text], an original algorithm based on heterogeneous hidden Markov model that incorporates inter-marker distances to detect ROH from WES data. We evaluated the performance of [Formula: see text] to correctly identify ROHs on synthetic chromosomes and examined its accuracy in detecting ROHs of different length (short, medium and long) from real 1000 genomes project data. [Formula: see text] turned out to be more accurate than GERMLINE and PLINK, two state-of-the-art algorithms, especially in the detection of short and medium ROHs.
2014
30
2852
2859
Magi A;Tattini L;Palombo F;Benelli M;Gialluisi A;Giusti B;Abbate R;Seri M;Gensini GF;Romeo G;Pippucci T
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/885529
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