Detecting large deletions at base pair level by combining split read and paired read data
نویسندگان
چکیده
منابع مشابه
PRISM: Pair-read informed split-read mapping for base-pair level detection of insertion, deletion and structural variants
MOTIVATION The development of high-throughput sequencing technologies has enabled novel methods for detecting structural variants (SVs). Current methods are typically based on depth of coverage or pair-end mapping clusters. However, most of these only report an approximate location for each SV, rather than exact breakpoints. RESULTS We have developed pair-read informed split mapping (PRISM), ...
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Genomic structural variants (SV) play a significant role in the onset and progression of cancer. Genomic deletions can create oncogenic fusion genes or cause the loss of tumor suppressing gene function which can lead to tumorigenesis by downregulating these genes. Detecting these variants has clinical importance in the treatment of diseases. Furthermore, it is also clinically important to detec...
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ژورنال
عنوان ژورنال: BMC Bioinformatics
سال: 2017
ISSN: 1471-2105
DOI: 10.1186/s12859-017-1829-z