… These results were confirmed by Sanger sequencing. In conclusion, benchtop next-generation
sequencing technology can be used to detect mutations in monogenic diseases and can …

… Because of the large number of exome sequences already aligned to hg18, NISC has …
exome sequence alignment. To compare our exome sequences to the ClinSeq exome sequences…

… whole-exome sequenced. To find causative variants in known disorder-associated genes, …
classified according to American College of Medical Genetics and Genomics guidelines. All …

… classified as per American College of Medical Genetics and Genomics guidelines, 2015. …
This study forms the first database for the genetic spectrum of hemolytic anemia in the Indian …

… When syndromes manifest at the mild end of their spectra, they are often overlooked by
clinicians. Our study clearly demonstrates the need to broaden criteria for diagnostic genetic …

… to the American College of Medical Genetics and Genomics (ACMG) … exome sequencing
identified known casual mutations in the MFN2, HINT1, HSPB1, GDAP1, and GARS genes in a …

… and SPTA1 genes, which might be due to either different genetic background between …
unique HS mutation spectrum. So far, 74 ANK1 mutations have been described associated …

… whole genome sequencing, and return of results. Participants were selected with a spectrum
… , 4 met the current American College of Medical Genetics and Genomics incidental findings …

… for exome and genome sequencing and highlight examples of successful disease gene …
To discuss the challenges for implementing NGS in the clinical research and diagnostic …

… to detect mutations in MHS genes in a less biased manner. … of the mutational spectra of the
RYR1 and CACNA1S genes, … Sanger sequencing of exons with poor exome sequence read-…