SurVIndel: improving CNV calling from high-throughput sequencing data through statistical testing
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btz261
Abstract: MOTIVATION Structural variations (SV) are large scale mutations in a genome; although less frequent than point mutations, due to their large size they are responsible for more heritable differences between individuals. Two prominent classes of… read more here.
Keywords: sequencing data; deletions tandem; survindel improving; improving cnv ... See more keywords
Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR–CCNB3 gene fusion
Sign Up to like & getrecommendations! Published in 2018 at "Histopathology"
DOI: 10.1111/his.13366
Abstract: Clear cell sarcoma of the kidney (CCSK) is a rare paediatric renal malignant tumour. The majority of CCSKs have internal tandem duplications (ITDs) of the BCOR gene, whereas a minority have the YWHAE–NUTM2 gene fusion.… read more here.
Keywords: bcor gene; internal tandem; clear cell; fusion ... See more keywords