Genomic characterization of colitis-associated colorectal cancer.
Kameyama, Hitoshi; Nagahashi, Masayuki; Shimada, Yoshifumi; Tajima, Yosuke; Ichikawa, Hiroshi; Nakano, Masato; Sakata, Jun; Kobayashi, Takashi; Narayanan, Sumana; Takabe, Kazuaki; Wakai, Toshifumi.
World J Surg Oncol
; 16(1): 121, 2018 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-29966533
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.
Regularized rare variant enrichment analysis for case-control exome sequencing data.
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Evidence for widespread subfunctionalization of splice forms in vertebrate genomes.
Characterization of the Regulation of CD46 RNA Alternative Splicing.
Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing.
Investigation of SLA4A3 as a candidate gene for human retinal disease.
Quantifying single nucleotide variant detection sensitivity in exome sequencing.
Clinical sequencing: is WGS the better WES?
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.