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Variant detection concordance.
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创建时间：
2017-07-13
相关数据集
Positive predictive value of UK Biobank Axiom™ array versus whole exome sequencing before and after application of RHA.
Positive predictive value of UK Biobank Axiom™ array versus whole exome sequencing before and after application of RHA.
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Supplementary table 4
Table 4. Average correlation between CV-accuracy and AR2 metrics and the observed SNP accuracy, major allele accuracy and minor allele accuracy on test sets, by minor allele frequency categories. Valu
Figshare2019-12-10 更新40
Quantifying the effect of Oxford Nanopore technology sequencing error rate on variant calling
We have used Oxford Nanopore Technology (ONT) long read sequencing assessing the error rate in allelic composition at variant loci, which is crucial to accurate SNV/CNA calling in all cancer genomics
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Comparison between the number of variants detected with the MPS and Sanger sequencing technologies.
FN: false negative result, extra: additional low allele frequency variants identified compared to Sanger sequencing. aIon Torrent PGM results obtained with the TS4.2 software. bMiSeq data obtained wit
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The impact of DNA source and eukaryotic DNA enrichment on genetic variant detection from human whole-genome sequencing data
With sequencing costs continuing to drop, whole-genome sequencing (WGS) is being used increasingly frequently for research studies and clinical genetic diagnostics. While blood is the most common sour
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