Martin Group | Population and medical genomics in under-studied populations

Martin Group | Population and medical genomics in under-studied populations

Martin Group

Our Research and Approach

We analyse large-scale genetic and electronic health record data from populations in which parental relatedness (consanguinity) is common, to explore fine-scale structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases.

Elena Arciero and Mari Niemi will be joining the group soon as postdocs. We are advertising for another postdoc in statistical genetics. Please contact Hilary (hcm at if you would like to discuss.

We are starting new and exciting projects using data from large cohorts of individuals enriched for parental relatedness, includingn East London Genes and Health (currently N~30,000 British South Asians), Born in Bradford (N=12,000, ~half with Pakistani ancestry), and Deciphering Developmental Disorders (N=10,000 trios, mixed ancestries).

The group will investigate such questions as:

  • Does autozygosity impact complex traits, and if so, through which types of variation?
  • How does autozygosity contribute to rare disorders beyond simple monogenic recessive inheritance?
  • How can individuals with consanguinity help us to learn more about incomplete/variable penetrance?
  • How does the biraderi (clan) structure in Pakistani populations impact the distribution of disease-causing variation?
  • Which genes are under recessive selection, and can we leverage this to inform discovery of disease genes?
  • How do current and historical patterns of consanguinity differ between populations?

A key feature of our work 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.


Martin, Hilary
Dr Hilary Martin
Group Leader

Hilary will be starting as a Group Leader in September 2018

Key Projects, Collaborations, Tools & Data

The Martin Group will be part of the following collaborations:

Research Programmes and Faciltites

Partners and Funders

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


  • 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