Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

Keyphrases

• 96-well Plate 33%
• Adapter 33%
• Adapter Ligation 33%
• Aligners 33%
• Amount of Input 66%
• Blocking Strategy 33%
• Calling Algorithm 33%
• Complex Disease 33%
• Complex Phenotypes 33%
• Disease Genes 33%
• DNA Samples 66%
• DNA Sequencing 33%
• Dynamic Programming 33%
• Efficient Strategy 33%
• Entire Genome 33%
• Exome 100%
• Exome Sequencing 33%
• Genomic Regions 33%
• Hamming Distance 33%
• High Sensitivity 33%
• Human Population 33%
• Hybrid Capture 100%
• Hybrid Method 33%
• Index Sequence 66%
• Library Preparation 33%
• Minor Allele Frequency 33%
• Multi-sampling 33%
• Multiplexing 100%
• Multiplexing Scheme 33%
• Novoalign 66%
• Oligonucleotides 33%
• Pooled Sequencing 33%
• Population-based 100%
• Pre-enrichment 66%
• Purification Process 33%
• Rare Genetic Variation 33%
• Rare Variant Detection 100%
• Rare Variants 100%
• Reagent Consumption 66%
• Reversible Immobilization 33%
• Sample Transfer 33%
• SAMtools 33%
• Scalable Methodology 33%
• Sequence Coverage 33%
• Sequencing Cost 33%
• Solid Phase 33%
• Variant Calling 66%
• Y-shaped 33%

Biochemistry, Genetics and Molecular Biology

• Candidate Gene 16%
• Copurification 16%
• DNA Sequence 16%
• Exome 100%
• Exome Sequencing 16%
• Genetic Divergence 16%
• Genetic Variation 16%
• Genomics 33%
• Indel 16%
• Minor Allele Frequency 16%
• Oligonucleotide 16%
• Rare Variant 100%