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In contrast to previous studies that typically use idealized scenarios to tease out the effects of individual design and analytic decisions, we used a complete analytical pipeline from read mapping and variant detection to genotype calling and haplotype phasing so that we can assess the joint effects of multiple decisions and thus make more realistic recommendations to investigators.
Exactly how did the DSCAM mapping and variant quantification work?
After mapping and variant calling, variants were annotated using SeattleSeq.
Read mapping and variant detection were performed with CLC Genomics Workbench 6.5.2 (CLC Bio, Aarhus, Denmark).
The statistics for mapping, and variant discovery are shown in Table 2 and Table 3 respectively.
The methods of sequence mapping and variant calling differ between the two studies.
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There is significant room for improvement in mapping and variant-calling methods, especially for small insertions or deletions and CNVs.
characterized as the Mopti form of An. coluzzii as described above were combined into a single pool that was purified using a MinElute Reaction Cleanup Kit (Qiagen) and sent to the CGR for sequencing, mapping and variants detection as described above.
VQSR integrates multiple attributes/annotations of the variants, all of which are based on features of sequencing, including the depth of coverage, strand bias, mapping qualities and variant position bias toward the end of the reads.
True positive (TP) observed calls matched the reference call in position, genotype and alternate bases, and were based on those variants that are callable (that is, the proportion of variants that are detected at or above the predefined alignment, mapping quality and variant calling quality thresholds).
Table S2 Panel test scores of PB 1121 as compared to Taraori Basmati and Pusa Basmati 1. Table S3 Reads mapped and variants discovered from whole genome re-sequencing of PB 1121.
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alignment and variant
mapping and variation
mapping and cellular
mapping and sophisticated
mapping and geological
mapping and other
mapping and geospatial
mapping and geographical
mapping and up-to-date
mapping and multiple
mapping and local
mapping and physical
mapping and statistical
mapping and genetic
mapping and genomic
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