Calling Variants in the Clinic: Informed Variant Calling Decisions Based on Biological, Clinical, and Laboratory Variables

摘要: Deep sequencing genomic analysis is becoming increasingly common in clinical research and practice, enabling accurate identification of diagnostic, prognostic, predictive determinants. Variant calling, distinguishing between true mutations experimental errors, a central task often requires sophisticated statistical, computational, and/or heuristic techniques. Although variant callers seek to overcome noise inherent biological experiments, calling can be significantly affected by outside factors including those used prepare, store, analyze samples. The goal this review discuss known features, such as sample preparation, library sequencing, alongside diverse variables, evaluate their effect on caller selection optimization.