<p>This study reports on genomic profiling [whole-exome sequencing (WXS), bulk RNA sequencing (RNA-seq), and/or single-cell RNA sequencing (scRNA-seq)] of patient-derived melanoma samples and matched normal samples. The goal is to elucidate the genetic and cellular basis of sun-exposed and sun-shielded melanomas and to relate these findings to survival and regional metastasis. Specimens were collected by the Tissue Resource Core of the <a href="https://medicine.yale.edu/dermatology/research/spore-in-skin-cancer/">Yale SPORE in Skin Cancer</a> with participants' informed signed consent according to Health Insurance Portability and Accountability Act (HIPAA) regulations with a Human Investigative Committee protocol. The melanomas used for sequencing were from fresh or snap-frozen tumors, or from short-term cell cultures. The cell cultures were routinely checked for mycoplasma contamination and were discarded when found positive. Matching normal DNA was from circulating lymphocytes or normal skin. We also include 77 WES-sequenced samples from the Yale Spitzoid neoplasm repository, which collects specimen and data according to a protocol approved by the Yale Human Investigative Committee.</p>

Genomic Profiling of Melanoma

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

Interlesional diversity of T cell receptors in melanoma with immune checkpoints enriched in tissue-resident memory T cells.

Spitz nevi and Spitzoid melanomas - Exome sequencing and comparison to conventional melanocytic nevi and melanomas

Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis