SAMtools / BCFtools / HTSlib
SAMtools, BCFtools. and HTSlib are tools for manipulating sequence alignment (SAM, BAM, CRAM) and variant call (VCF and BCF) files.
All the code is non-encumbered OpenSource license, predominantly MIT with some BSD. Please see the top of each file for the specifics.
Sanger Institute Contributors
Human Genetics Informatics (HGI)
Human Genetics Informatics (HGI) supports the scientific aims of the Human Genetics programme by developing and operating computational analysis workflows, managing ...
Genomic mutation and genetic disease
The Hurles group studies the genetic causes and mechanisms of rare genetic disorders and how DNA mutates as it is pass ...
New Pipeline Group (NPG)
NPG is responsible for the delivery of DNA Pipelines's data products and the provision of informatics expertise and QC systems.