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The analysis of variants generated by exome sequencing (ES) of families with rare Mendelian diseases is a time‐consuming, manual process that represents one barrier to applying the technology routinely. To address this issue, we have developed a software tool, VAR‐MD (), for analyzing the DNA...
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into...
Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease‐causing mutations requires sifting through a large number of sequence variants. A subset of the variants are unlikely to be good candidates for disease causation based on one or...
Some cases of maternally inherited isolated deafness are caused by mtDNA mutations, frequently following an exposure to aminoglycosides. Two mitochondrial genes have been clearly described as being affected by mutations responsible for this pathology: the ribosomal RNA 12S gene and the transfer...
Genome‐wide associations with glycosylated hemoglobin, which reflects the long‐term glycemia, were examined using two independent cohorts of the Korea Association Resource (KARE) consortium. We first identified sequence variants within a linkage disequilibrium block (r2 > 0.98) in the intron...
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint...
Target enrichment strategies are a very common approach to sequence a predefined part of an individual's genome using second‐generation sequencing technologies. While highly dependent on the technology and the target sequences selected, the performance of the various assays is also variable...
In this study, we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Because ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a...
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