FINAL - Variant Curation

Question 1

WES

Answer 1

Whole exome sequencing

Question 2

WGS

Answer 2

Whole genome sequencing

Question 3

WGS vs WES

Answer 3

WES creates powerful enrichment of exonic seq, while minimizing the sequence of intronic and intergenic fragments. Creates a focused analysis at a lesser cost than WGS

Question 4

Depth of coverage

Answer 4

More is better

Question 5

5 tiers for classification

Answer 5

Pathogenic, likely pathogenic, uncertain significance, likely benign, benign

Question 6

Classifications

Answer 6

Very Strong (PVS)
Strong (PS)
Moderate (PM)
Supporting (PP)

Stand-alone (BA)
Strong (BS)
Supporting (BP)