CATCHing putative causative variants in consanguineous families
نویسندگان
چکیده
منابع مشابه
family-based whole-exome sequencing for identifying novel variants in consanguineous families with schizophrenia
conclusions by applying wes, both novel and known scz pathogenic variants with complete or incomplete segregation in the families with multiple cases of schizophrenic patients were identified. background schizophrenia (scz) is a complex neuropsychiatric disorder characterized by pronounced genetic heterogeneity. much of the genetic architecture of the disorder has not yet been clearly elucidate...
متن کاملSequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
PURPOSE To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. METHODS Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. RESULTS Sanger sequencin...
متن کاملInferring causative variants in microRNA target sites
MicroRNAs (miRNAs) regulate genes post transcription by pairing with messenger RNA (mRNA). Variants such as single nucleotide polymorphisms (SNPs) in miRNA regulatory regions might result in altered protein levels and disease. Genome-wide association studies (GWAS) aim at identifying genomic regions that contain variants associated with disease, but lack tools for finding causative variants. We...
متن کاملIdentifying genes responsible for intellectual disability in consanguineous families.
Consanguinity is an important determinant of birth defects including intellectual disability (ID). Consanguineous populations have a relative high prevalence of autosomal recessive forms of intellectual disability (ARID), which constitute a highly heterogeneous group of disorders both in their clinical presentation and in their genetic aetiology. The availability of large cohorts of consanguine...
متن کاملDistinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
OBJECTIVE We sought to create a classification system for pediatric corpus callosal abnormalities (CCA) based upon midline sagittal brain MRI. We used the term CCA for patients with structural variants of the corpus callosum, excluding patients with interhemispheric cyst variant or pure dysplasia without hypoplasia. Currently, no system exists for nonsyndromic forms of CCA, and attempts to crea...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2015
ISSN: 1471-2105
DOI: 10.1186/s12859-015-0727-5