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 ...

Check out Python’s powerful new linters and profiling tools, and learn how virtual environments can save you time and trouble ...

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 ...

We stitched maf alignments and converted them to fasta using the script maf_to_concat_fasta.py from bx-python. The pairwise alignment distance between species of each of the selected H3K27ac peaks was ...

To study the contamination of microorganisms in the food industry, pharmaceutical industry, clinical diagnosis, or bacterial taxonomy, accurate identification of species is a key starting point of ...