… that of whole-exome sequencing and may ultimately still not provide a precise diagnosis. …
-exome sequencing and genotype analysis to screen members of consanguineous families …

… of consanguineous families and economic benefit for the healthcare system in Turkey and
elsewhere. We demonstrate that an untargeted next generation sequencing … of consanguinity. …

… Exome sequencing data analyses The generated exome sequencing data were analyzed …
high-quality trimmed paired-end sequences against the human reference genome (hg19) was …

… consanguineous families (88.2% homozygous). Our data underscores the high yield of ES
in consanguineous families and … , trio sequencing should be strongly considered in simplex …

… Detailed methodology for exome sequencing, analysis and … Families with a reported
consanguineous family history were retrospectively reviewed for ethnicity, degree of consanguinity, …

… In 63.3% of consanguineous families, we identified a mutation in a known monogenic
disease gene as causative. The majority of these mutations were, as postulated, present in the …

… populations enriched for de novo mutations, exome sequencing in our consanguineous
study group resulted in a diagnosis in more than one-third of the families (36.8%). The major …

… While next-generation sequencing data has been abundant in European and North American
… Data regarding clinical symptoms, neuroimaging results, family history, and genetic testing …

… lagged behind, predominantly due to non-availability of sizeable families. Here we present
the results of exome sequencing in 121 large consanguineous Pakistani ID families. In 60 …

… We have identified 24 consanguineous families in which two or more pregnancies were … in
19 of the 24 families and these were subjected to whole-exome sequencing (WES). Additional …