Comparison between the number of variants detected with the MPS and Sanger sequencing technologies.

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posted on 2014-11-10, 02:56 authored by Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca

FN: false negative result, extra: additional low allele frequency variants identified compared to Sanger sequencing.

Ion Torrent PGM results obtained with the TS4.2 software.

MiSeq data obtained with the in-house GATK pipeline.

Comparison between the number of variants detected with the MPS and Sanger sequencing technologies.

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DNA polymerase amplification step coverage bias mitochondrial genome MiSeq device MPS platforms Ion Torrent PGM system pilot study library construction process DNA dysfunction strand representation shearing methodology heteroplasmic variant sequencing Diagnostic Bench sequence motif

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Comparison between the number of variants detected with the MPS and Sanger sequencing technologies.

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