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CATCHing putative causative variants in consanguineous families

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales:	Santoni, Federico Andrea, Makrythanasis, Periklis, Antonarakis, Stylianos E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Software
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587650/ https://www.ncbi.nlm.nih.gov/pubmed/26415661 http://dx.doi.org/10.1186/s12859-015-0727-5

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