Our collaboration with the labs of Toni Choueiri and Matthew Freedman, lead by Sarah Abou Alaiwi and Amin Nassar, is now out in Cell Reports:
Trans-ethnic variation in germline variants of patients with renal cell carcinoma. Alaiwi SA[+], Nassar AH, Adib E, Groha S, Akl EW, McGregor BA, Esplin ED, Yang S, Hatchell K, Fusaro V, Nielsen S, Kwiatkowski DJ, Sonpavde GP, Pomerantz M, Garber JE, Freedman ML, Rana HQ, Gusev A[+], Choueiri TK[+]. Cell Reports. 2021
The work used a novel approach to infer genetic ancestry using variants in a small number of targeted genes in patients with Renal Cell Carcinoma. The inferred ancestry components were then linked to pathogenic germline mutations to identify multiple population-specific variants. The work motivates further multi-ethnic genomic characterization of RCC.
See co-first author Sarah Abou Alaiwi’s tweetorial for more!