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5) The variants shared between the father (#9, #10) and their daughters (#5, #6, #7) were removed upon Sanger sequencing validation; 6) All the remaining variants were validated by Sanger sequencing to confirm that each variant is a real germline mutation present only in the breast cancer-affected members.
Variants were validated using the AmpliSeq Cancer Hotspot Panel (Supplementary Methods).
Both missense variants were validated by Sanger sequencing and were shown to segregate with the disease in each family (Supplementary Figure 2).
Most of the SNPs with a minor allele frequency below 0.01 were false positive although two rare variants were validated at a low frequency.
Based on a 4 MB genomic region in which individual variants were validated by Sanger sequencing, we observe tradeoffs between rates of false positives and false negatives when using both platforms under similar coverage and mapping criteria.
All the TP53 variants were validated in the discovery set.
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The DE algorithms and its variants are validated for two test systems consisting of 6 and 15 thermal units.
The pipeline for calling somatic variants was validated by analyzing two technical WGS replicates and showed a 94% and 99% validation rate of the somatic SNVs (Supplementary Table 4).
The aligned reads and called variants are validated against the true alignments and variants, respectively.
Motivation: Although genome-wide association studies (GWAS) have identified thousands of variants associated with common diseases and complex traits, only a handful of these variants are validated to be causal.
The Foot Force Stability Margin and its modified variant were validated through numerical and physical experiments.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com