Recently I started the concerning mutations in CEBPA gene within patients with prostate cancer. I got two heterozygous for p.D52fs / p.S323* mutations from my wes data. Could anyone tell me how to clarify whether the different mutations were on the same allele or on different alleles?
1 answer
With short reads you probably can't, WES is also not suitable for phasing (assuming that both mutations are in different exons). You can try a (long range) PCR covering the genomic region of both mutations, followed by (cloning and) Sanger sequencing, or confirm that there is no protein with western blot.
Hello Peter ,
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