Martin Group | Population and medical genomics

Martin Group | Population and medical genomics

Martin Group

Our Research and Approach

We analyse large-scale genetic and electronic health record data, including from populations in which parental relatedness (consanguinity) is common, to explore fine-scale population structure, its impact on disease risk, and the genetic architecture of both rare and complex diseases.We are starting new and exciting projects using data from large cohorts of individuals enriched for parental relatedness, including East London Genes and Health (currently N~35,000 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:

  • How do common variants impact the penetrance and expressivity of rare variants, particularly in the context of neurodevelopmental disorders?
  • How does the biraderi (clan) structure in Pakistani populations impact the distribution of disease-causing variation?
  • 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 we maximise polygenic prediction of traits in different populations?
  • 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?

Elena Arciero is the first postdoc in the group, and Emilie Wigdor has recently joined as a PhD student (June 2019). We are looking forward to welcoming Qinqin Huang as a postdoc in July 2019. Please contact Hilary (hcm at if you are interested in joining the group.

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 started as a Group Leader in September 2018.

Key Projects, Collaborations, Tools & Data

The Martin Group is 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


  • 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