| Autor: |
Miller, Neil, Farrow, Emily, Gibson, Margaret, Willig, Laurel, Twist, Greyson, Byunggil Yoo, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh, Saunders, Carol, Thiffault, Isabelle, Soden, Sarah, Smith, Laurie, Dinwiddie, Darrell, Herd, Suzanne, Cakici, Julie, Catreux, Severine, Ruehle, Mike, Kingsmore, Stephen |
| Rok vydání: |
2015 |
| DOI: |
10.6084/m9.figshare.c.3639146_d4.v1 |
| Popis: |
Examination of the sensitivity and accuracy of nucleotide variant genotype calls in WGS with the published WGS50 and GSNAP/GATK-VQSR pipelines. A. Comparison of the sensitivity and accuracy of all nucleotide variant calls. B. Comparison of the accuracy of variants that were uniquely called by the GSNAP/GATK-VQSR. WGS was performed using the HiSeq 2500 with 2 × 100 cycles and 18-h run time. The sample UDT_173 genotype “truth set” was from hybridization to the Omni4 SNP array. The NA12878 ‘truth set’ was from ftp://ftp-trace.ncbi.nih.gov/giab/ftp/data/NA12878/variant_calls/NIST26. (PDF 213 kb) |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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