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GenomicStudy of Melanoma Risk in Australia and the United Kingdom

The results from a small number of melanoma GWAS have been published. Initial studies identified several pigmentation- and nevus-associated loci that mediate an effect on melanoma risk, however, these studies were somewhat limited in that sample number (hence power) was low, they used first-gener...

phs000519 | dbGaP
Proteomicshistone modification signatures in mice melanoma progression
In the search for the biological mechanisms that underlie melanoma development, we have developed a cellular system that models tumor initiation and transformation from melanocytes to metastatic melanoma cells.. To evaluate histone PTM, we applied a workflow to globally detect histone PTM by mass sp...
ORGANISM(S): Mus musculus (Mouse) 
2021-09-09 | PXD019313 | Pride
Ptm Mice Histone Melanoma 
GenomicsEGAS00001000017-sc-20110505 - samples
Familial Melanoma Sequencing
EGAD00001000016 | EGA
GenomicsFamilial 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.
EGAS00001000017 | EGA
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownA second update on mapping the human genetic architecture of COVID-19.
Not available
S-EPMC10482689 | biostudies-literature
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
Not available
S-EPMC12056793 | biostudies-literature
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