Genetics for clinicians: from candidate genes to whole genome scans (technological advances).

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State: Public
Version: author
Serval ID
serval:BIB_5978B910BFFA
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Genetics for clinicians: from candidate genes to whole genome scans (technological advances).
Journal
Best Practice and Research. Clinical Endocrinology and Metabolism
Author(s)
Bochud M.
ISSN
1878-1594 (Electronic)
ISSN-L
1521-690X
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
26
Number
2
Pages
119-132
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Publication Status: ppublish
Abstract
Human genetics has progressed at an unprecedented pace during the past 10 years. DNA microarrays currently allow screening of the entire human genome with high level of coverage and we are now entering the era of high-throughput sequencing. These remarkable technical advances are influencing the way medical research is conducted and have boosted our understanding of the structure of the human genome as well as of disease biology. In this context, it is crucial for clinicians to understand the main concepts and limitations of modern genetics. This review will describe key concepts in genetics, including the different types of genetic markers in the human genome, review current methods to detect DNA variation, describe major online public databases in genetics, explain key concepts in statistical genetics and finally present commonly used study designs in clinical and epidemiological research. This review will therefore concentrate on human genetic variation analysis.
Keywords
Case-Control Studies, Cohort Studies, Cross-Sectional Studies, Databases, Genetic, Gene Frequency, Genetic Linkage, Genetic Markers, Genetic Variation, Genetics, Medical, Genome, Human, Genome-Wide Association Study, Genomics/methods, Humans, Minisatellite Repeats
Pubmed
Web of science
Create date
20/04/2012 10:36
Last modification date
20/08/2019 15:12
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