CanVar

CanVar provides germline variant frequency data derived from exome sequencing of cancer patient cohorts to support interpretation of hereditary cancer predisposition and research.

Key Features:

• Germline Variant Frequency Data: Catalogs germline variants and reports allele frequencies from cancer patient exomes for use in variant interpretation.
• Exome Sequencing Framework: Uses the ExAC framework to analyze high-throughput exome sequencing data.
• Disease-Specific Data Repository: Provides disease-specific frequency data to contextualize clinical mutation screens and small gene discovery projects in cancer research.
• Initial Dataset: Contains exomes from 1,006 familial early-onset colorectal cancer (CRC) patients sequenced at The Institute of Cancer Research.

Scientific Applications:

• Cancer Predisposition Studies: Supports studies of hereditary cancer predisposition by supplying germline variant frequency data from cancer cohorts.
• Clinical Genomic Sequencing Interpretation: Provides cohort-specific allele frequencies to aid interpretation of clinical sequencing results in oncology genetics.

Methodology:

High-throughput exome sequencing data are processed using the ExAC framework and compiled into a centralized germline variant frequency resource.