In silico error correction improves cfDNA mutation calling | Zendy

Chang Sik Kim | Zendy; Sumitra Mohan | Zendy; Mahmood Ayub | Zendy; Dominic G. Rothwell | Zendy; Caroline Dive | Zendy; Ged Brady | Zendy; Crispin Miller | Zendy

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In silico error correction improves cfDNA mutation calling

Author(s) -

Chang Sik Kim,

Sumitra Mohan,

Mahmood Ayub,

Dominic G. Rothwell,

Caroline Dive,

Ged Brady,

Crispin Miller

Publication year - 2018

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bty1004

Subject(s) - computer science , computational biology , dna sequencing , error detection and correction , redundancy (engineering) , in silico , algorithm , dna , biology , genetics , gene , operating system

Circulating-free DNA (cfDNA) profiling by sequencing is an important minimally invasive protocol for monitoring the mutation profile of solid tumours in cancer patients. Since the concentration of available cfDNA is limited, sample library generation relies on multiple rounds of PCR amplification, during which the accumulation of errors results in reduced sensitivity and lower accuracy.

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