SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data
نویسندگان
چکیده
منابع مشابه
SoloDel: a probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data
MOTIVATION Finding somatic mutations from massively parallel sequencing data is becoming a standard process in genome-based biomedical studies. There are a number of robust methods developed for detecting somatic single nucleotide variations However, detection of somatic copy number alteration has been substantially less explored and remains vulnerable to frequently raised sampling issues: low ...
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UNLABELLED Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are likely to denote autozygosity, whereby both copies of the genome descend from the same recent ancestor. Early tools to detect RoH used genotype array data, but substantially more information is available from ...
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Summary: We developed an efficient tool dedicated to call somatic variants from whole-exome sequencing (WES) data using tumor and its matched normal tissue, plus a user-defined control panel of non-cancer samples. Compared with other methods, we showed superior performance of LoLoPicker with significantly improved specificity. The algorithm of LoLoPicker is particularly useful for calling varia...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2015
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/btv358