{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Cancer Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001004274"],"host":["EGA"],"description":["EGA study EGAS00001004274"],"dataset_title":["Nevi exome sequencing"],"repository":["EGA"],"category":["restricted"],"description_synonyms":["dermis plus epidermis plus hypodermis, the integument, region of skin, pelt, Balearic Islands, Complete Exome, Otf-11, Skn-li, Neoplasms, Benign Neoplasm, Progress Reports, Tumor, Malignant, epidermis, Mutations, melanoma (disease), Violet, Investigative, melanoma, Summary Report, symptoms, Whole Transcriptome, Transcriptome Sequencing, Pansy, placement, Summary Reports, Pansies, integumentum commune, Skn-1a, study, WES, Complete, Exome Sequencings, skin, findings., Malignancy, Progress Report, Complete Exome Sequencing, Naevocarcinoma, Whole Transcriptome Sequencing, dermoid system, entire skin, SKIN, Sequencing, Neoplasias, Progress, skin organ, Whole Exome, extruding from, Field Reports, Violets, Whole, Fam91a1, Otf11, Malignancies, Investigative Reports, AV220772, skin and subcutaneous tissue, Cancer, Tumors, screening, Oct-11a, Malignant Neoplasm, Complete Exome Sequencings, malignant, exits through, Exome, Canary Islands, skin zone, integumental organ, Malignant Melanomas, not genetically inherited, Violas, skin plus hypodermis, Melanomas, Exome Sequencing, Benign, Oct11, skin region, Melanoma, Investigative Report, Malignant Melanoma, BC033609, Research Reports, Neoplasm, relational spatial quality, Skin-1a, tegument, Skin, skin benign neoplasm, Radiations, Complete Transcriptome, Complete Transcriptome Sequencing, Field, vertebrate integument, signs, common, Benign Neoplasms, Cancers, exposed, mKIAA0493, Malignant Neoplasms, Epoc-1, portion of skin, vertebrate epidermis, Report, integument, Reports, Whole Exome Sequencing, 2018, malignant melanoma, entire integument, Summary, dermal system, location, Transcriptome Sequencings, Neoplasia, Field Report"],"name_synonyms":["Mutations, atypia, atypical, DNA Damage Response., defective, aberrant"],"additional_accession":[]},"is_claimable":false,"name":"Mutation signatures in melanocytic nevi reveal characteristics of defective DNA repair","description":"Nevi are common benign melanocytic neoplasms that can be found on any skin location and share many of the genomic hallmarks of melanoma. In our recent report involving whole-exome sequencing of acquired nevi (Stark et al., 2018), ultra-violet radiation (UVR) related somatic mutation signatures (“signature 7”) (Alexandrov et al., 2013) were frequently observed in all lesions that were located on sun-exposed sites. In the study presented herein, we sought to investigate whether an independent Spanish cohort (Valencia, Spain) of minimally sun exposed nevi had genomic features consistent with our previous findings.","dates":{"updated":"2020-03-04 13:52:19"},"accession":"EGAS00001004274","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001006011","EGAC00001001509"]}}