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 Mr Sendu Bala

Mr Sendu Bala

Principle Software Developer

Photo of Allan Daly

Allan Daly

Senior Bioinformatician

Photo of Dr Ruth Eberhardt

Dr Ruth Eberhardt

Senior Bioinformatician

Photo of Ene Göktan

Ene Göktan

Informatics & Digital Associate

Photo of Dr Matiss Ozols

Dr Matiss Ozols

Principal Bioinformatician

Photo of Dr Mark Thomas

Dr Mark Thomas

Principal Bioinformatician

Previous team members

Photo of Piyush Ahuja

Piyush Ahuja

Senior Software Developer

Photo of Dr Pavlos Antoniou

Dr Pavlos Antoniou

Principal Software Developer

Photo of Irina Gabriela Colgiu

Irina Gabriela Colgiu

Senior Software Developer

Photo of Dr Edgar Garriga Nogales

Dr Edgar Garriga Nogales

Senior Bioinformatician

Photo of Christopher Harrison

Christopher Harrison

Senior Software Developer

Photo of Emyr James

Emyr James

Principal Systems Administrator / Principal DevOps Engineer

Photo of Filip Makosza

Filip Makosza

Sandwich Year Placement

Photo of Dr Guillaume Noell

Dr Guillaume Noell

Senior Software Developer

Photo of Colin Nolan

Colin Nolan

Former Group Leader (Acting)

Photo of Dr Hannes Ponstingl

Dr Hannes Ponstingl

Principal Bioinformatician

Photo of Dr Joshua C. Randall

Dr Joshua C. Randall

Senior Scientific Manager

Related groups