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Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors.

Erin L CrowgeyTea SoiniNidhi ShahSatu-Liisa PauniahoPekka LahdenneDavid B WilsonMarkku HeikinheimoTodd E Druley
Published in: The application of clinical genetics (2020)
Leveraging deep pedigrees and next-generation sequencing, rare germline variants were identified that were enriched in three families from Finland with a history of familial germ cell tumors. The data presented support the importance of germline mutations when analyzing complex cancers with a low somatic mutation landscape.
Keyphrases
  • germ cell
  • copy number
  • dna repair
  • genome wide
  • single cell
  • early onset
  • electronic health record
  • dna methylation
  • dna damage
  • big data
  • artificial intelligence
  • childhood cancer