Wellcome Sanger Institute

Human Genetics Informatics (HGI)

Human Genetics

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. CromwellNextFlow)
  • 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!

Core team

Photo of Dr Pavlos Antoniou

Dr Pavlos Antoniou

Principal Software Developer

Photo of Allan Daly

Allan Daly

Senior Bioinformatician

Photo of Piyush Ahuja

Piyush Ahuja

Senior Software Developer

Photo of Dr Guillaume Noell

Dr Guillaume Noell

Senior Software Developer

Photo of Filip Makosza

Filip Makosza

Sandwich Year Placement

Photo of Christopher Harrison

Christopher Harrison

Senior Software Developer

Previous team members

Photo of Colin Nolan

Colin Nolan

Former Group Leader (Acting)

Photo of Irina Gabriela Colgiu

Irina Gabriela Colgiu

Senior Software Developer

Photo of Dr Joshua C. Randall

Dr Joshua C. Randall

Senior Scientific Manager

Photo of Emyr James

Emyr James

Principal Systems Administrator / Principal DevOps Engineer

Related groups