Super panel for comprehensive genetic testing

We have developed a super panel aims to provide comprehensively genetic testing of coverage on Mendelian diseases, cancer variants, cardiovascular diseases, complex diseases, and ethnicity report. The panel has been used to identify unexpected heroes in resilience project, catalog variants for individuals with family history of breast cancer, sequence individuals with longitudinal electronic medical records at Mount Sinai, and build disease risk modeling for healthy individuals.

For Comprehensive cancer variants, we have:

• 139 cancer genes
• 405 cancer GWAS SNPs
• 908 noncoding cancer regions

For Mendelian disease, we have:

• 401 genes for 299 Mendelian diseases
  • Inherited cancer syndrome: 9 genes
  • Cardiac: 29 genes
  • Cutaneous (Dermatology): 19 genes
  • Deafness:7 genes
  • Developmental:54 genes
  • Endocrine:9 genes
  • Gastroenterologic: 4 genes
  • Gastrointestinal:  2 genes
  • Hematologic:24 genes
  • Hepatic:1 gene
  • Immunodeficiency: 25 genes
  • Metabolic: 108 genes
  • Neuromuscular: 18 genes
  • Neurological: 55 genes
  • Ocular: 9 genes
  • Renal: 17 genes
  • Respiratory: 9 genes
  • Skeletal: 13 genes
  • Other: 1 gene

For resilience sub-panel, we have:

• 209 genes with very high penetrance, leading to early onset of severe childhood diseases
• 861 mutations/indels
  • 270 outside exon regions (most covered by +/-50 bp)
• Covering 183 severe childhood diseases

For final super panel, we have:

• 761 distinct genes with +/- 50 bp flanking exons
  • 401 Mendelian genes
  • 139 Cancer genes
  • 150 Cardiovascular genes
  • 112 PGX genes
  • 226 resilience genes
  • 41 Maturity Onset Diabetes of the Young (MODY) genes
• 4259 hot spots

Over 4000 regions include total of  405 cancer GWAS SNPs, 908 cancer non-coding regions, 2028 complex disease risk model SNPs, 751 ethnicity SNPs, 270 resilience regions, and 8 Mendelian disease regions. See super_panel and list of Super_Panel_Disease.8.17.2015.