A comparative investigation of single nucleotide variant calling for a personal non-Caucasian sequencing sample
Author:
Funder
Ministry of Science and ICT, South Korea
National Institute on Aging
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s13258-023-01439-w.pdf
Reference26 articles.
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2. Beck TF, Mullikin JC, Program NCS, Biesecker LG (2016) Systematic evaluation of sanger validation of next-generation sequencing variants. Clin Chem 62(4):647–654
3. Chen J, Li X, Zhong H, Meng Y, Du H (2019) Systematic comparison of germline variant calling pipelines cross multiple next-generation sequencers. Sci Rep 9(1):9345
4. Cho YS, Kim H, Kim HM, Jho S, Jun J, Lee YJ, Chae KS, Kim CG, Kim S, Eriksson A, Edwards JS, Lee S, Kim BC, Manica A, Oh TK, Church GM, Bhak J (2016) An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes. Nat Commun 7:13637
5. Cornish A, Guda C (2015) A comparison of variant calling pipelines using genome in a bottle as a reference. Biomed Res Int 2015:456479
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