The study utilized a comprehensive dataset comprising 151 de-identified VCF files from patients with confirmed Mendelian disorders, sourced through collaborations with clinical diagnostic laboratories
Background: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors arising from chromaffin cells in the adrenal medulla and extra-adrenal ganglia, respectively. The study was aimed t
Abbreviations: con, control individuals; RPL, recurrent pregnancy loss patients. aChromosomal positions from NCBI build 37. bMajor allele > minor allele on the + strand. Variants and genotypes that ar
