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Human_primary_melanoma_project

Mutational burden and profiles to be studied in approx. 500 human primary melanomas with matched normal samples, part of the Leeds melanoma cohort. New custom design targeted capture panel covering melanoma-specific copy number alterations, promoter mutations, gene fusions, coding genes, HLA regions and IFNg/JAK/STAT pathway genes.

Type: Other
Archive: European Genome-phenome Archive (EGA)

1 Dataset 2 Publications

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
EGAD00001008360	Mutational burden and profiles to be studied in approx. 500 human primary melanomas with matched normal samples, part of the Leeds melanoma cohort. New custom design targeted capture panel covering melanoma-specific copy number alterations, promoter mutations, gene fusions, coding genes, HLA regions and IFNg/JAK/STAT pathway genes.	Illumina HiSeq 4000	1

Publications	Citations
Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma. Birkeälv S, Harland M, Matsuyama LSAS, Rashid M, Mehta I, Laye JP, Haase K, Mell T, Iyer V, Robles-Espinoza CD, McDermott U, van Loo P, Kuijjer ML, Possik PA, Maria Engler SS, Bishop DT, Newton-Bishop J, Adams DJ. J Pathol 259: 2023 56-68	14
Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation. Thakur R, Xu M, Thornock AM, Yon J, Anyaso-Samuel S, Lauss M, Rehling T, Bui-Raborn L, Sowards H, Duncan G, Jessop L, Myers T, Chari R, Long E, Funderburk K, Yin J, Hennessey R, Hsieh E, Levin H, Machiela MJ, Zhang T, Jönsson G, Bishop DT, Newton-Bishop J, Nsengimana J, Iles MM, Landi MT, Law MH, Andresson T, Choi J, Zon LI, Shi J, Melanoma Meta-Analysis Consortium, Brown KM. Am J Hum Genet 113: 2026 2140-2164	0

Publications

Citations

Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.
Birkeälv S, Harland M, Matsuyama LSAS, Rashid M, Mehta I, Laye JP, Haase K, Mell T, Iyer V, Robles-Espinoza CD, McDermott U, van Loo P, Kuijjer ML, Possik PA, Maria Engler SS, Bishop DT, Newton-Bishop J, Adams DJ. J Pathol 259: 2023 56-68

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.
Thakur R, Xu M, Thornock AM, Yon J, Anyaso-Samuel S, Lauss M, Rehling T, Bui-Raborn L, Sowards H, Duncan G, Jessop L, Myers T, Chari R, Long E, Funderburk K, Yin J, Hennessey R, Hsieh E, Levin H, Machiela MJ, Zhang T, Jönsson G, Bishop DT, Newton-Bishop J, Nsengimana J, Iles MM, Landi MT, Law MH, Andresson T, Choi J, Zon LI, Shi J, Melanoma Meta-Analysis Consortium, Brown KM. Am J Hum Genet 113: 2026 2140-2164