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Finding de novo mutations: Next Generation Sequencing
Whole exome sequencing (WES)
Coding sequence only Sequence depth: ~100x Detection of point mutations and CNVs
Whole genome sequencing (WGS)
Entire genome
Sequence depth: ~30x
All point mutations, and all structural variation
Using a family‐based sequencing strategy
‐ Sequence the patient and both parents
‐ Identify possible de novo mutations by filtering >20,000 variants
Identification of de novo mutations feels like ‘Where’s Wally?’
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PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 15