Abstract
During the initial stages of the genome revolution human genetics was hugely successful in discovering the underlying genes for monogenic diseases. Over 3,000 monogenic diseases have been discovered with simple patterns of inheritance. The unravelling and identification of the genetic variants underlying complex or multifactorial traits, however, is proving much more elusive. There have been over 1,000 significant variants found for many quantitative and binary traits yet they explain very little of the estimated genetic variance or heritability evident from family analysis. There are many hypotheses as to why this might be the case. This apparent lack of information is holding back the clinical application of genetics and shedding doubt on whether more of the same will reveal where the remainder of the variation lies. Here we explore the current state of play, the types of variants we can detect and how they are currently exploited. Finally we look at the future challenges we must face to persuade the human genome to yield its secrets.
Keywords: Association complex human genetics genome-wide genomics GWAS prediction
Current Genomics
Title:Human Complex Trait Genetics: Lifting the Lid of the Genomics Toolbox - from Pathways to Prediction
Volume: 13 Issue: 3
Author(s): Suzanne J. Rowe and Albert Tenesa
Affiliation:
Keywords: Association complex human genetics genome-wide genomics GWAS prediction
Abstract: During the initial stages of the genome revolution human genetics was hugely successful in discovering the underlying genes for monogenic diseases. Over 3,000 monogenic diseases have been discovered with simple patterns of inheritance. The unravelling and identification of the genetic variants underlying complex or multifactorial traits, however, is proving much more elusive. There have been over 1,000 significant variants found for many quantitative and binary traits yet they explain very little of the estimated genetic variance or heritability evident from family analysis. There are many hypotheses as to why this might be the case. This apparent lack of information is holding back the clinical application of genetics and shedding doubt on whether more of the same will reveal where the remainder of the variation lies. Here we explore the current state of play, the types of variants we can detect and how they are currently exploited. Finally we look at the future challenges we must face to persuade the human genome to yield its secrets.
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Cite this article as:
J. Rowe Suzanne and Tenesa Albert, Human Complex Trait Genetics: Lifting the Lid of the Genomics Toolbox - from Pathways to Prediction, Current Genomics 2012; 13 (3) . https://dx.doi.org/10.2174/138920212800543101
DOI https://dx.doi.org/10.2174/138920212800543101 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
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