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CATCHing putative causative variants in consanguineous families

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Published in BMC Bioinformatics. 2015, vol. 16, p. 310
Abstract Consanguinity is an important risk factor for autosomal recessive (AR) disorders. Extended genomic regions identical by descent (IBD) in the offspring of consanguineous parents give rise to recessive disorders with identical (homozygous) pathogenic variants in both alleles. However, many clinical phenotypes presenting in the offspring of consanguineous couples are still of unknown etiology. Nowadays advances in High Throughput Sequencing provide an excellent opportunity to achieve a molecular diagnosis or to identify novel candidate genes.
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PMID: 26415661
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Article (Published version) (656 Kb) - public document Free access
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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SANTONI, Federico, MAKRYTHANASIS, Periklis, ANTONARAKIS, Stylianos. CATCHing putative causative variants in consanguineous families. In: BMC Bioinformatics, 2015, vol. 16, p. 310. https://archive-ouverte.unige.ch/unige:78004

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Deposited on : 2015-12-01

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