Structural variants (SVs) are the most common nucleotide alteration per human genome compared to other variant types and have profound implications in evolution, diseases and regulation of genes.

Bioinformatic Pipeline for evaluating and charcterizing a reference genome sequence for a prokaryotic reference material using replicate whole genome sequencing data from orthogonal sequencing methods ...

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AutoPVS1 use VEP to determine the effect of variants (SNVs, insertions, deletions, CNVs) on genes, transcripts, and protein sequence. To get HGVS name for the variant, indexed_vep_cache ...

Linked-Read library preparation was performed according to the 10x Genomics protocol on the Chromium Controller instrument 57. Libraries were then sequenced to 30–40× coverage on the Illumina NovaSeq ...