Human Genetics Informatics (HGI) | Human Genetics

Human Genetics Informatics (HGI) | Human Genetics

Human Genetics Informatics (HGI)

Our Research and Approach

We help the Human Genetics faculty groups evaluate and access the best methods to process and absorb the huge amounts of sequencing data produced by modern studies at Sanger. In practice, this means creating, testing and running variant-calling pipelines, RNASeq pipelines and annotation pipelines on cohorts of tens of thousands of genomes, exomes and transcriptomes. 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!

People

Vivek Iyer
Group Leader

  

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Alumni

James, Emyr

James, Emyr
Emyr James
Principal Systems Administrator / Principal DevOps Engineer

Key Projects, Collaborations, Tools & Data

HGI develops all of our software in the open in our public github repositories, and in accordance with Sanger's software policy, all software is available under a free and open source license. A selection of potentially useful software tools are listed below.We are also part of several large collaborations, including the MRC-funded medical informatics infrastructure projects eMedLab and UMIC.

Research Programmes and Faciltites

Partners and Funders

Within Sanger, we work closely with data production teams who supply the input to our processing pipelines, the systems teams who manage our infrastructure, and other informatics teams with whom we collaborate on some development projects. In addition, we work with researchers in the faculty teams to assist them with their informatics needs.
Internal Partners