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MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair

Next-generation sequencing has revolutionized cancer genetics, but accurately detecting mutations in repetitive DNA sequences, especially mononucleotide runs, remains a challenge. This is a particular concern for tumors with defective mismatch repair (MMR) that accumulate strand-slippage mutations....

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Walker, Christopher J., Miranda, Mario A., O’Hern, Matthew J., Blachly, James S., Moyer, Cassandra L., Ivanovich, Jennifer, Kroll, Karl W., Eisfeld, Ann-Kathrin, Sapp, Caroline E., Mutch, David G., Cohn, David E., Bundschuh, Ralf, Goodfellow, Paul J
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5021604/
https://ncbi.nlm.nih.gov/pubmed/27346418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23036
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