Characterization of complex hereditary cancer associated germline variants with long read sequencing

Presenting Author: Sami Belhadj, PhD

Take home points: 

1. The challenge of resolving SV/ME with targeted short read sequencing. LR seq palliates shortcomings.
2. PALB2 EX13 duplications at the DNA level have different RNA outcomes and different classifications.
3. Targeted long read sequencing might not fully resolve SV breakpoints (ATM EX34-3’UTR dup).
4. Paraphase tool (PacBio) helps to resolve variants affecting the 3′ end of PMS2. Example of EX11dup case and how the MLPA finding supporting EX11dup was a false positive.