Abstract

Mammalian genomes contain highly conserved sequences that are not functionally transcribed. These sequences are single copy and comprise approximately 1–2% of the human genome. Evolutionary analysis strongly supports their functional conservation, although their potentially diverse, functional attributes remain unknown. It is likely that genomic variation in conserved non-genic sequences is associated with phenotypic variability and human disorders. So how might their function and contribution to human disorders be examined?

Author affiliations

1. Emmanouil T. Dermitzakis is at the Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
2. Alexandre Reymond is at the Centre Integratif de Genomique, Faculte de biologie et de medecine, BEP, CH-1015 Lausanne, Switzerland.
3. Stylianos E. Antonarakis is at the Department of Genetic Medicine and Development, University of Geneva Medical School, 1 Rue Michel-Servet, 1211 Geneva, Switzerland.

Correspondence to: Emmanouil T. Dermitzakis¹ Email: md4@sanger.ac.uk

Correspondence to: Stylianos E. Antonarakis³ Email: Stylianos.Antonarakis@medecine.unige.ch

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