Baits were designed to capture all exons, 3′UTR, and 5′UTR regions of all genes, including ALK and EML4 genes.
Although hotspot NGS panels that interrogate specific areas of high mutational susceptibility have been developed and are in use in some clinical molecular laboratories, they are unable to capture the sequence alterations across all exons of a gene and, for the same reason, have limited CNV detection capability.
were used to capture all exons, the splice site and the immediately adjacent intron sequence of 112 human genes.
As all exons of the 409 genes are captured and sequenced using the Ion Proton, this method facilitates better detection of gain or loss of gene copy number.
We used Molecular Inversion Probes (MIPs) to capture all exon and intron/exon boundaries (5 bp flanking) of target genes (Refseq, hg19 build).
(II) In a second set of samples, we performed targeted capturing of all exons and 5 bp of flanking intronic sequence of the GPHN gene using MIPs as previously described (Carvill et al, 2013).
DNA from individual 7 underwent NGS after targeted capture for coding exons of all previously reported HI genes.
Targeted enrichment strategies, such as hybridization methods designed to capture the exons of annotated genes (the 'exome') prior to sequencing, offer a way to circumvent some of the limitations posed by saliva-derived DNA samples.
With this in mind, we developed an automated high-resolution HLA typing approach suitable for diagnostic use applying a 454 GS Junior, capturing 17 exons of HLA-A, -B, -C, -DQB1, -DPB1, -DRB1, -DRB3, -DRB4 and -DRB5 (DRB3/4/5).
Whole-exome sequencing captures the coding exons of genes that contain the vast majority of disease causing mutations.
