Scientific article
Open access

CATCHing putative causative variants in consanguineous families

Published inBMC bioinformatics, vol. 16, 310
Publication date2015

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.

Citation (ISO format)
SANTONI, Federico, MAKRYTHANASIS, Periklis, ANTONARAKIS, Stylianos. CATCHing putative causative variants in consanguineous families. In: BMC bioinformatics, 2015, vol. 16, p. 310. doi: 10.1186/s12859-015-0727-5
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Article (Published version)
ISSN of the journal1471-2105

Technical informations

Creation11/13/2015 4:09:00 PM
First validation11/13/2015 4:09:00 PM
Update time03/14/2023 11:54:41 PM
Status update03/14/2023 11:54:41 PM
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