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Large deletion predisposes to familial melanoma

Mutations in CDKN2A and CDK4 account for ~40% of multi-case melanoma families, with another ~10% attributable to BAP1 and genes associated with telomere maintenance. Thus, a substantial proportion of the genetic risk underlying familial melanoma remains unexplained.

Type: Whole Genome Sequencing
Archiver: European Genome-phenome Archive (EGA)

3 Datasets

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002153	This dataset contains whole-exome sequence data from four individuals in a high-density melanoma family. Sequences were aligned against human reference genome HG19 using BWA.	Illumina HiSeq 2000	4
EGAD50000002154	This dataset contains whole-genome sequence data from individuals in a high-density melanoma family. Sequences were aligned againt the human reference genome HG19 using BWA.	Illumina HiSeq 2000	10
EGAD50000002155	This dataset contains PacBio long-read sequence data from two individuals with a chr9p.21 structural variant and two controls. Sequences were aligned againt the human reference genome HG38.	unspecified	4