Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance

Keyphrases

• Quality Control 100%
• Variant Calling 100%
• Whole-genome Sequence Data 100%
• Concordance Rate 100%
• Genotype 66%
• Genome Analysis 66%
• Whole Genome Sequencing 66%
• Biallelic 66%
• Accuracy Improvement 33%
• Effect Analysis 33%
• Next-generation Sequencing 33%
• Sequencing Studies 33%
• Genotype Calling 33%
• Multiallelic 33%
• ClinVar 33%
• Read Depth 33%
• Pipeline Analysis 33%
• Genotype Concordance 33%
• Variant Effect 33%
• Depth Filter 33%

Biochemistry, Genetics and Molecular Biology

• Whole Genome Sequencing 100%
• Quality Control 100%
• Genotyping 75%
• Sample Size 25%
• Next Generation Sequencing 25%