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2016 1
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2019 1
2021 0
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Indel variant analysis of short-read sequencing data with Scalpel.
Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, Lyon GJ, Wigler M, Schatz MC, Narzisi G. Fang H, et al. Nat Protoc. 2016 Dec;11(12):2529-2548. doi: 10.1038/nprot.2016.150. Epub 2016 Nov 17. Nat Protoc. 2016. PMID: 27854363 Free PMC article.
As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains cha …
As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, …
Comparison of INDEL Calling Tools with Simulation Data and Real Short-Read Data.
Li D, Kim W, Wang L, Yoon KA, Park B, Park C, Kong SY, Hwang Y, Baek D, Lee ES, Won S. Li D, et al. IEEE/ACM Trans Comput Biol Bioinform. 2019 Sep-Oct;16(5):1635-1644. doi: 10.1109/TCBB.2018.2854793. Epub 2018 Jul 10. IEEE/ACM Trans Comput Biol Bioinform. 2019. PMID: 30004886
In order to better understand these inter-tool differences, five popular and publicly available INDEL calling tools-GATK HaplotypeCaller, Platypus, VarScan2, Scalpel, and GotCloud-were evaluated using simulation data, 1000 Genomes Project data, and fam …
In order to better understand these inter-tool differences, five popular and publicly available INDEL calling tools-GATK HaplotypeCal …
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