Differential Variant Calling
Differential variant calling is a bioinformatics pipeline that identifies genetic variants — single nucleotide variants (SNVs), small insertions/deletions (indels), and structural variants — that are present in one biological sample or condition but absent (or significantly enriched) in a paired reference sample. The canonical application is tumor-versus-normal cancer genomics, where somatic mutations unique to the tumor are distinguished from germline variants shared with normal tissue. The same logic applies to comparing treated vs. untreated cell lines, evolved vs. ancestral strains, or case vs. control cohorts in population genomics.
Registro de origen
Citas copiadas textualmente del registro de origen del método. No se infiere ninguna verificación a nivel de afirmación de ellas.
- Koboldt, D.C., Zhang, Q., Larson, D.E., Shen, D., McLellan, M.D., Lin, L., Miller, C.A., Mardis, E.R., Ding, L., & Wilson, R.K. (2012). VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Research, 22(3), 568–576. · DOI 10.1101/gr.129684.111
- Cibulskis, K., Lawrence, M.S., Carter, S.L., Sivachenko, A., Jaffe, D., Sougnez, C., Gabriel, S., Meyerson, M., Lander, E.S., & Getz, G. (2013). Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nature Biotechnology, 31(3), 213–219. · DOI 10.1038/nbt.2514
Afirmaciones curadas
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Métodos relacionados
Generado a partir del grafo de métodos y mostrado como relaciones sugeridas por la máquina; no se infiere ninguna afirmación de evidencia.