Bioinformatics for Human Genetics: Promises and Challenges

Annika Elisabeth Lindblom (1) , Peter N. Robinson (2)

1 Department of Molecular Medicine & Surgery
2 Institute of Medical Genetics

Computers have been used for decades to get practical work done in the field of human genetics for the benefit of patients and the advancement of science. To name only two examples, computer algorithms and programs for linkage analysis have formed the foundation of most disease-gene discovery projects, and databases of clinical findings have been widely used to support diagnostic decisions in the field of dysmorphology and general human genetics. A number of trends and recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the ever increasing role of hospital information technology (IT) systems and electronic health records are confronting scientists and clinicians with ever increasing amounts of data but also with ever improving tools to analyze these data for research and clinical care. Correspondingly, the field of bioinformatics is increasingly turning to research questions in the field of human genetics, and the field of human genetics is increasingly making use of bioinformatic algorithms and tools. The choice of "Bioinformatics and Human Genetics" as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in Human Genetics, and we have been fortunate to be able to recruit some of the leaders in this field as authors.

Mots clés: Life Sciences

Annika Elisabeth Lindblom, Peter N. Robinson. Bioinformatics for Human Genetics: Promises and Challenges. Human Mutation, 2011, 32 (5), pp.495. ⟨10.1002/humu.21468⟩. ⟨hal-00634348⟩