ID
45743
Description
Principal Investigator: Rose Yang, PhD, National Institutes of Health, Bethesda, MD, USA MeSH: Melanoma, Cutaneous Malignant https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001177 Although a number of high-risk melanoma genes have been identified, they account for melanoma risk in less than 40% of melanoma-prone families. The major goals of our research are to identify novel high-penetrance genes for familial melanoma in melanoma-prone families without known mutations and to identify modifier factors, including genetic and epigenetic, in melanoma-prone families with and without known major mutations. We are using whole exome sequencing to identify additional high-risk susceptibility genes and using targeted sequencing to follow up on the top genes in additional family members and in population-based melanoma cases and controls. We are also using RNASeq to investigate genome-wide allele-specific expression and eQTLs in these families to identify genes with expression alteration, which will provide additional information for gene discovery. In addition, we also conducted genome-wide copy number variation (CNV), methylation, and miRNA expression profiling analyses in our melanoma families with the goal of identifying genetic and epigenetic factors as disease modifiers.
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- 6/2/23 6/2/23 - Chiara Middel
Copyright Holder
Rose Yang, PhD, National Institutes of Health, Bethesda, MD, USA
Uploaded on
June 2, 2023
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License
Creative Commons BY 4.0
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dbGaP phs001177 Rare Germline Variations in Familial Melanoma
The subject consent file includes subject IDs and consent information.
- StudyEvent: SEV1
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype table contains subject IDs, sex, family ID, relationship to the proband of the family, displayed family ID and subject ID in the published paper, and affection status of the subject for Melanoma.
- This sample attributes table contains sample ID, histological type, body site where sample was collected, analyte type, and tumor status.
- This pedigree table contains family ID, subject ID, mother ID, father ID, and gender of participant.
Similar models
The subject consent file includes subject IDs and consent information.
- StudyEvent: SEV1
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype table contains subject IDs, sex, family ID, relationship to the proband of the family, displayed family ID and subject ID in the published paper, and affection status of the subject for Melanoma.
- This sample attributes table contains sample ID, histological type, body site where sample was collected, analyte type, and tumor status.
- This pedigree table contains family ID, subject ID, mother ID, father ID, and gender of participant.