Martin Group | Medical and population genomics

Martin Group | Medical and population genomics

Martin Group

Martin Group: Population and Medical Genomics - at the Wellcome Sanger Institute 2019
Martin Group: Population and Medical Genomics - at the Wellcome Sanger Institute 2019

Our Research and Approach

We analyse large-scale genetic and electronic health record data to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases. We have a particular focus on populations in which parental relatedness (consanguinity) is common. Our current projects use data from the following studies:

  • East London Genes and Health (ELGH) is a population-based cohort of British South Asians with high rates of cardiometabolic disease and of parental relatedness (current N~35,000, and growing to 100,000). Electronic health record and genotype data are available on all individuals, and exome-sequence data on ~5,000. 
  • Born in Bradford (BiB) is a birth cohort with data on ~11,000 mothers and their children, of whom about half have Pakistani ancestry. It was established to investigate determinants of child and adult disease, and includes rich phenotypic and environmental data as well as genetic (genotype and whole-exome) and metabolomic data.
  • Deciphering Developmental Disorders (DDD) is a study of >13,000 patients with rare, severe paediatric disorders who have been exome-sequenced and genotyped to find diagnoses, discover new genes and understand the genetic architecture of these conditions. 
  • Genomics England - 100K Genomes Project (GEL) is a clinical whole-genome sequencing project embedded within the National Health Service, from which the data have been made available for research. We are particularly focusing on the ~20,000 families with rare paediatric disease, of whom ~10% are South Asian.

A key feature of our research is to work in partnership with the individuals and populations we are studying. We uphold strict data security and confidentiality procedures and work closely with cohorts we are studying in community engagement and dissemination of our scientific findings.

Read More


Martin, Hilary
Dr Hilary Martin
Group Leader

Hilary started as a Group Leader in September 2018.

Key Projects, Collaborations, Tools & Data

The Martin Group is part of the following collaborations:

Programmes, Associate Research Programmes and Facilities

Partners and Funders

The Martin Group collaborates with the following groups at the Sanger Institute:
Internal Partners
External Partners and Funders


  • Quantifying the contribution of recessive coding variation to developmental disorders.

    Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M et al.

    Science (New York, N.Y.) 2018;362;6419;1161-1164

  • Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

    Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S et al.

    Nature 2018;562;7726;268-271

  • A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

    Davies B, Brown LA, Cais O, Watson J, Clayton AJ et al.

    Human molecular genetics 2017;26;20;3869-3882

  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

    Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB et al.

    Nature genetics 2015;47;7;717-726

  • Multicohort analysis of the maternal age effect on recombination.

    Martin HC, Christ R, Hussin JG, O'Connell J, Gordon S et al.

    Nature communications 2015;6;7846

  • Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

    Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL et al.

    Human molecular genetics 2014;23;12;3200-11

  • Imperfect centered miRNA binding sites are common and can mediate repression of target mRNAs.

    Martin HC, Wani S, Steptoe AL, Krishnan K, Nones K et al.

    Genome biology 2014;15;3;R51

  • Evolution of a membrane protein regulon in Saccharomyces.

    Martin HC, Roop JI, Schraiber JG, Hsu TY and Brem RB

    Molecular biology and evolution 2012;29;7;1747-56