Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

2023-10-29 genetic and genomic medicine Title + abstract only

Show abstract

Structural variants (SVs), including large deletions, duplications, inversions, translocations, and complex SVs have the potential to disrupt gene function resulting in rare disease. Nevertheless, current pipelines and clinical decision support systems for exome sequencing (ES) tend to focus on small alterations such as single nucleotide variants (SNVs) and insertions-deletions shorter than 50 base pairs (indels). Additionally, detection and interpretation of large copy-number variants (CNVs) ar...

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Predicted journal destinations