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Authors: Jorge Oliveira 1 ; Rute Pereira 2 ; Rosário Santos 3 and Mário Sousa 2

Affiliations: 1 Universidade do Porto and Centro Hospitalar do Porto, Portugal ; 2 Universidade do Porto, Portugal ; 3 Centro Hospitalar do Porto, Portugal

ISBN: 978-989-758-214-1

ISSN: 2184-4305

Keyword(s): Whole-Exome Sequencing, Homozygosity Mapping, Next-Generation Sequencing, Clinical Genetics.

Related Ontology Subjects/Areas/Topics: Algorithms and Software Tools ; Bioinformatics ; Biomedical Engineering ; Genomics and Proteomics ; Next Generation Sequencing ; Sequence Analysis

Abstract: In the human genome, there are homozygous regions presenting as sizeable stretches, or ‘runs’ of homozygosity (ROH). The length of these ROH is dependent on the degree of shared parental ancestry, being longer in individuals descending from consanguineous marriages or those from isolated populations. Homozygosity mapping is a powerful tool in clinical genetics. It relies on the assumption that, due to identity-by-descent, individuals affected by a recessive disease are likely to have homozygous markers surrounding the disease locus. Consequently, the analysis of ROH shared by affected individuals in the same kindred often helps to identify the disease-causing gene. However, scanning the entire genome for blocks of homozygosity, especially in sporadic cases, is not a straight-forward task. Whole-exome sequencing (WES) has been shown to be an effective approach for finding pathogenic variants, particularly in highly heterogeneous genetic diseases. Nevertheless, the huge amount of data, especially variants of unknown clinical significance, and the presence of false-positives due to sequencing artifacts, makes WES analysis complex. This paper briefly reviews the different algorithms and bioinformatics tools available for ROH identification. We emphasize the importance of performing ROH analysis using WES data as an effective way to improve diagnostic yield. (More)

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Paper citation in several formats:
Oliveira, J.; Pereira, R.; Santos, R. and Sousa, M. (2017). Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases. In Proceedings of the 10th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 3: BIOINFORMATICS, (BIOSTEC 2017) ISBN 978-989-758-214-1 ISSN 2184-4305, pages 210-216. DOI: 10.5220/0006248502100216

@conference{bioinformatics17,
author={Jorge Oliveira. and Rute Pereira. and Rosário Santos. and Mário Sousa.},
title={Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases},
booktitle={Proceedings of the 10th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 3: BIOINFORMATICS, (BIOSTEC 2017)},
year={2017},
pages={210-216},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0006248502100216},
isbn={978-989-758-214-1},
issn={2184-4305},
}

TY - CONF

JO - Proceedings of the 10th International Joint Conference on Biomedical Engineering Systems and Technologies - Volume 3: BIOINFORMATICS, (BIOSTEC 2017)
TI - Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases
SN - 978-989-758-214-1
IS - 2184-4305
AU - Oliveira, J.
AU - Pereira, R.
AU - Santos, R.
AU - Sousa, M.
PY - 2017
SP - 210
EP - 216
DO - 10.5220/0006248502100216

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