<p>The goal of this study was to identify a potential driver of epidermal inclusion cysts, or epidermoid cysts, (EICs) in human skin. Individuals were recruited at EIC excision appointments made a priori, with no exclusion criteria. Fresh biopsies and saliva were taken from consented patients, and DNA harvested immediately. Whole exome sequencing was performed (150-bp paired end reads) to 200X in tissue and 80X in saliva via Illumina NovaSeq 6000 sequencer. Identification of somatic mutations was performed using GATK best practices. Somatic variants in the <a href="https://www.ncbi.nlm.nih.gov/gene/91754">NEK9 </a>gene were found in 12/14 cases sequenced, with clustering of variants within the <a href="https://www.ncbi.nlm.nih.gov/gene/1104">RCC1 </a>and kinase domains of the protein.</p>

Genetic Analysis of Epidermal Inclusion Cysts

Epidermal Cyst study with WXS data on dbGaP (13 participants)

Genetic Analysis of Epidermal Inclusion Cysts

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Summary