Clinical exome sequencing (CES) is a routine diagnostic tool for rare Mendelian genetic disorders. The reported rate for identification of the causative single nucleotide variant (SNV) or ...

Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting complex genomic rearrangements. Here we used Pacific Biosciences circular ...

Exome sequencing (ES) is commonly used to diagnose Mendelian disorders, which occur when pathogenic variant(s) in a gene are either inherited from one or both parents or are de novo. Examples of such ...