biopsialle
Biopsialle is a term sometimes used to describe an allele variant identified in a biopsy specimen, reflecting tissue-specific or somatic genetic variation detected in the sampled tissue. The word is a portmanteau of biopsy and allele and is not part of formal, widely adopted genetic nomenclature. In current mainstream usage, such variants are more commonly described as somatic mutations or mosaic alleles detected in biopsy material, rather than as a distinct category.
Detection and interpretation of a biopsialle typically involve obtaining tissue by biopsy followed by molecular analysis,
Limitations include sampling bias and intratumoral or tissue heterogeneity, which can lead to under- or overestimation