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GenomicMedLab / preferredlist

Lists of genes and hotspots for filter pass-through inspection in variant interpretation
MIT License
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Discussion notes #6

Open ahwagner opened 3 years ago

ahwagner commented 3 years ago

For your reference: Clinical utility of custom-designed NGS panel testing in pediatric tumors https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-019-0644-8

ahwagner commented 3 years ago

Capture disease specificity

ahwagner commented 3 years ago

Capture variant type relevant to genes of interest: CNAs, LoF / GoF

Histopath results to help narrow down evaluation

ahwagner commented 3 years ago

Capture gene/disease relationships for Mr. Phene?