
NCBI . NLM . NIH . GOV {
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Title[redir]:
Discriminating somatic and germline mutations in tumor DNA samples without matching normals - PMC
Description:
Tumor analyses commonly employ a correction with a matched normal (MN), a sample from healthy tissue of the same individual, in order to distinguish germline mutations from somatic mutations. Since the majority of variants found in an individual are ...
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Keywords {๐}
variants, samples, correction, sample, data, variant, number, method, somatic, normal, svs, complete, genomics, genomes, illumina, database, snvs, databases, pmc, article, set, doi, tumor, indels, hcc, pubmed, google, scholar, public, free, genome, cancer, analysis, sequencing, galaxy, filtering, structural, tool, supplemental, germline, project, cosmic, found, additional, determined, methods, sequenced, position, detected, removed,
Topics {โ๏ธ}
genome-sequencing-services/sequencing-service-providers-ign/sequencing-services nl/repos/saskia-hiltemann/virtual_normal_preprocessing simulation-based error models erbb2-induced mammary tumorigenesis pmc beta search purely position-based methods free public archive ti/tv ratio decreases control-free correction method purely position-based method average genome-wide coverage tumor-normal sequencing service org/cgi/doi/10 org/mutnomen/recs-dna supplementary materials included control-free calling false-positive somatic variants population-scale genome sequencing publisher site pdf uk/cosmic/sample/overview public mutation databasesโrepresents high-confidence somatic variants highest-confidence somatic variants exclusively copy-number variants highconf vn+db denotes exome sequencing identifies european nucleotide archive false-positive rate ti/tv ratio van der spek high-confidence variants determined pmc disclaimer cgatools source code korbel jo deep-sequencing data generation sequencing data false-positive variant population-scale sequencing supplemental data s2 supplemental data s3 supplemental data s8 supplemental data s7 supplemental data s6 supplemental data s4 supplemental data s1 additional validation data genome-sequenced cancer samples lethal prostate cancers high-confidence criterion united states government
Questions {โ}
- Consider the following very simple example: Given a reference sequence of CAG and a variant sequence of CAAG, do we describe the variant as an A having been inserted after the C or before the G?
- Uk/cosmic/sample/overview?
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