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A validated lineage-derived somatic truth data set enables benchmarking in cancer genome analysis

Existing cancer benchmark data sets for human sequencing data use germline variants, synthetic methods, or expensive validations, none of which are satisfactory for providing a large collection of true somatic variation across a whole genome. Here we propose a data set, Lineage derived Somatic Truth...

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Detalles Bibliográficos
Autores principales: Shand, Megan, Soto, Jose, Lichtenstein, Lee, Benjamin, David, Farjoun, Yossi, Brody, Yehuda, Maruvka, Yosef, Blainey, Paul C., Banks, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722876/
https://www.ncbi.nlm.nih.gov/pubmed/33293579
http://dx.doi.org/10.1038/s42003-020-01460-9
Descripción
Sumario:Existing cancer benchmark data sets for human sequencing data use germline variants, synthetic methods, or expensive validations, none of which are satisfactory for providing a large collection of true somatic variation across a whole genome. Here we propose a data set, Lineage derived Somatic Truth (LinST), of short somatic mutations in the HT115 colon cancer cell-line, that are validated using a known cell lineage that includes thousands of mutations and a high confidence region covering 2.7 gigabases per sample.