Una guía práctica para la detección de variaciones estructurales en el genoma humano.

Profiling genetic variants-including single nucleotide variants, small
insertions and deletions, copy number variations, and structural variations
(SVs)-from both healthy individuals and individuals with disease is a key
component of genetic and biomedical research. SVs are large-scale changes
in the genome and involve breakage and rejoining of DNA fragments. They may
affect thousands to millions of nucleotides and can lead to loss, gain, y
reshuffling of genes and regulatory elements. SVs are known to impact gene
expression and potentially result in altered phenotypes and diseases.
Por lo tanto, identifying SVs from the human genomes is particularly
important. In this review, I describe advantages and disadvantages of the
available high-throughput assays for the discovery of SVs, which are the
most challenging genetic alterations to detect. A practical guide is
offered to suggest the most suitable strategies for discovering different
types of SVs including common germline, rare, somatic, and complex
variants. I also discuss factors to be considered, such as cost and
performance, for different strategies when designing experiments. Last, I
present several approaches to identify potential SV artifacts caused by
samples, experimental procedures, and computational analysis. © 2020 Wiley
Periodicals LLC.