Genome Sequencing
The variant workflow detected multiple variant classes, including SNVs, indels, CNVs, structural variants, mitochondrial variants, and short tandem repeat expansions. Sequencing used Illumina platforms with mean coverage of at least 29.5x.…
1 sources - 4 claims
The variant workflow detected multiple variant classes, including SNVs, indels, CNVs, structural variants, mitochondrial variants, and short tandem repeat expansions. Sequencing used Illumina platforms with mean coverage of at least 29.5x. The study used PCR-free short-read whole-genome sequencing from blood, buccal, or saliva samples. Short-read sequencing has limitations for structural variants and repetitive genomic regions.