often resulting in a frameshift Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome is flipped and reinserted Opitz-Kaveggia syndrome Deletion A region of a chromosome is ...

Chromosomal aberrations are larger-scale mutations that can occur during ... resulting in a total duplication of every chromosome pair. Such a process created an "instant speciation" event in ...

Variant and copy number calls are made using a unique bioinformatics pipeline detecting all types of mutations including single nucleotide substitutions, indels, and frameshifts caused by deletion/ ...