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Familial Melanoma Sequencing

In this experiment we have sequenced the exome of 15 individuals from eight families who have familial melanoma. By sequencing the exome we hope to be able to identify new genes that are associated with this disease.

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
EGAD00001000016 Illumina Genome Analyzer II Illumina HiSeq 2000 89
Publications Citations
POT1 loss-of-function variants predispose to familial melanoma.
Nat Genet 46: 2014 478-481
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
J Natl Cancer Inst 107: 2015 dju408