Human Genetics Informatics (HGI)
All this requires superb understanding and control of:
- The Sanger’s High Performance Compute architecture (many server farms with thousands of cores)
- The Sanger’s OpenStack Flexible Compute Architecture and how to reliably deploy into it
- Frameworks to run biological pipelines (e.g. Cromwell, NextFlow)
- Frameworks to store, annotate, filter and analyse very large amounts of genomic variant data (e.g. Hail , or more experimental software such as Tachyon)
- Tools to help us view and account for our storage and processing
We rely on Sanger’s systems teams, and cooperate extensively with Sanger core teams and other Sanger program informatics teams such as Cancer Informatics and Cell Gen Informatics to share experience and practice.
We aim to deliver data in a reliable way and continously improve how and what we deliver. One thing is clear – we can no longer hand over vcf files and call it a day! Interested? Come talk to us!
Hail analysis pipelines
Hail based analysis pipelines for HG projects: pipelines for QC of genome - sequenced cohorts, and GWAS after QC. Designed to ...
Terraform and ansible codebase to provision clusters (e.g. hail/spark) at Sanger. The framework can be used to provision ...
A bioinformatics analysis pipeline used for RNA sequencing data, written in the new nextflow DSL2 language syntax, leveraging nextflow modules.
This code performs targeted archiving of the files arising from the analysis of Sanger sequencing projects.
Genomics of inflammation and immunity
The goal of our research is to use high-throughput screens to gain causal insights into the biological basis of human disease, ...
We combine genomic analysis with clinical data to understand how genetics contributes to the variation between patients in their disease ...
Human Genetics Administration
The Human Genetics Administration comprises a five strong team that provides comprehensive support for the smooth running of the Human Genetics ...
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 ...
Informatics Support Group
High Performance Computing
Our Informatics support team is responsible for both developing and providing scale out scientific compute platforms that can both meet todays ...
Information Communications Technology
Provide World Class High Performance Computing and First Class Production Platforms and Services for genome and biodata research.
Medical and population genomics
We analyse large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the ...
New Pipeline Group (NPG)
DNA Pipelines Informatics
NPG is responsible for DNA Pipelines's production informatics analysis pipelines, Illumina sequencing QC tools and expertise, and internal archiving of ...
Function of human DNA and its variation
Our goal is to understand how genetic background influences outcome of mutations. To do so, we measure, model, and modulate cell ...
Programmes and Facilities
The Human Genetics Programme is driving a step-change in our understanding of genetic causes and biological mechanisms of disease susceptibility and ...