Sequencing_melanoma_germlines

In this project we performed targeted sequencing of around 50 candidate melanoma genes in the germline of melanoma patients and matched controls. Our aim was to identify variants that contribute to melanoma susceptibility.

Type: Other
Archiver: EGA European Genome-Phenome Archive

2 Datasets 1 Publication

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
EGAD00001002743	These samples comprise both melanoma cases and controls sequenced for a selection of loci linked to disease susceptibility. These bams are a subset of the sequencing restricted specifically to the GRCh37 coding areas of the BAP1 gene.		3186
EGAD00001007520	In this project we performed targeted sequencing of known and suspected melanoma susceptibility genes in a cohort of melanoma patients and matched controls. Our aim was to identify variants that predispose to melanoma development. The melanoma cases used in this study were population ascertained.	Illumina HiSeq 2000	2731

Publications	Citations
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci. Castaneda-Garcia C, Iyer V, Nsengimana J, Trower A, Droop A, Brown KM, Choi J, Zhang T, Harland M, Newton-Bishop JA, Bishop DT, Adams DJ, Iles MM, Robles-Espinoza CD. Hum Mol Genet 31: 2022 2845-2856	1