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From sequence to functional understanding: the difficult road ahead

Periklis Makrythanasis1 and Stylianos E Antonarakis12*

Author Affiliations

1 Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland

2 Service of Genetic Medicine, University Hospitals of Geneva, Rue Michel Servet 1, 1211 Geneva, Switzerland

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Genome Medicine 2011, 3:21  doi:10.1186/gm235

Published: 6 April 2011


DNA sequencing has become cheap, rapid and accurate, allowing us to access thousands of genomes and reveal the extensive variation among individuals. The major problem that arises from this is distinguishing between neutral and pathogenic variants. A recent study by Davis et al., in which a functional screen of all the non-synonymous variants of a newly discovered gene was performed, highlights the value and necessity of characterizing the functional consequences of each genomic variant discovered. This is the main challenge for the advancement of genomic medicine in the years to come.