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Whole genome sequencing of primary and metastatic Melanoma cases in an Australian cohort.

Melanoma is the fourth most common cancer in Australia and the leading cause of cancer death in young adults. The Australian Melanoma Genome Project (AMGP) is analysing whole genomes from melanomas. We include the results of whole genome sequencing (WGS) for a number of datasets that include cutaneous, acral and mucosal melanoma subtypes.

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
EGAD00001003353 -
EGAD00001003357 -
EGAD00001003388 -
EGAD00001004409 -
EGAD00001004474 -
EGAD00001004869 -
EGAD00001005454 -
EGAD00001005500 -
EGAD00001005501 -
EGAD00001005738 -
EGAD00001006439 -
EGAD00001007055 -
EGAD00001008798 1139
EGAD00001008837 230
Publications Citations
Whole-genome landscapes of major melanoma subtypes.
Nature 545: 2017 175-180
Identification of Cancer Drivers at CTCF Insulators in 1,962 Whole Genomes.
Cell Syst 8: 2019 446-455.e8
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.
Nat Commun 10: 2019 3163
Transcriptional downregulation of MHC class I and melanoma de- differentiation in resistance to PD-1 inhibition.
Nat Commun 11: 2020 1897
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.
Nat Commun 11: 2020 2408
Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.
Nat Commun 11: 2020 5259
Ultraviolet radiation drives mutations in a subset of mucosal melanomas.
Nat Commun 12: 2021 259
Tumour gene expression signature in primary melanoma predicts long-term outcomes.
Nat Commun 12: 2021 1137
Pathway signatures derived from on-treatment tumor specimens predict response to anti-PD1 blockade in metastatic melanoma.
Nat Commun 12: 2021 6023
Characterisation of the spectrum and genetic dependence of collateral mutations induced by translesion DNA synthesis.
PLoS Genet 18: 2022 e1010051
Anatomic position determines oncogenic specificity in melanoma.
Nature 604: 2022 354-361
Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.
Genome Med 14: 2022 65
The impact of rare germline variants on human somatic mutation processes.
Nat Commun 13: 2022 3724
Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes.
Cancer Discov 12: 2022 2856-2879
streammd: fast low-memory duplicate marking using a Bloom filter.
Bioinformatics 39: 2023 btad181
Generalising uncertainty improves accuracy and safety of deep learning analytics applied to oncology.
Sci Rep 13: 2023 7395
Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.
Nature 621: 2023 129-137
A tumor-associated endothelial signature score model in immunotherapy and prognosis across pan-cancers.
Front Pharmacol 14: 2023 1190660
Landscape of enhancer disruption and functional screen in melanoma cells.
Genome Biol 24: 2023 248
Most large structural variants in cancer genomes can be detected without long reads.
Nat Genet 55: 2023 2139-2148
Functional analysis of recurrent CDC20 promoter variants in human melanoma.
Commun Biol 6: 2023 1216
Inflammatory response signature score model for predicting immunotherapy response and pan-cancer prognosis.
Comput Struct Biotechnol J 23: 2024 369-383