… This review examines the uses of next-generation DNA sequencing (NGS) in the … genome
sequencing identifies variants throughout the genome, whole exome sequencing sequences …

… studies that have employed next-generation sequencing techniques in cohorts of patients …
primary immunodeficiencies. The average diagnostic yield for primary immunodeficiencies is …

… sequencing: multiplex PCR, hybridization, and molecular inversion probes [47]. As compared
to exome and genome sequencing, we … for increased depth of sequencing coverage, which …

… defects underlying primary immunodeficiencies (PIDs) have been identified, increasing
the number of PID up to more than 250 well-defined forms. Next-generation sequencing (NGS) …

… of those genes in exomes sequenced on the SOliD 5500XL and Illumina platforms and
found that the coverage of 7 of those 9 genes was similar or less. Exome sequencing has the …

… families) from the main referring clinics for exome sequencing to our diagnostic laboratory
(… Saudi Arabia) were submitted for whole exome sequencing. The average age at testing was …

… This study aims to validate a targeted next-generation sequencing panel of 300 genes to
diagnose a cohort of 129 patients with primary immunodeficiency with no prior molecular …

… Alignment to human genome GRCh37 was achieved followed by postprocessing and … with
primary immunodeficiencies and related pathways. An additional 210 exome samples from …

… The advent of next-generation sequencing (NGS) and of whole exome sequencing (WES)
in … This is highly relevant to the field of primary immunodeficiencies (PIDs) where the use of …

… Several NGS approaches are available, from the unbiased whole exome sequencing (…
exome sequencing (CES) for genetic diagnosis of PIDs. We used the TruSight One sequencing …