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.
Export Options
About this article
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 |
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
A Review of the Evidence for a Neuroendocrine Link Between Stress, Depression and Diabetes Mellitus
Current Diabetes Reviews Human 5-HT4 and 5-HT7 Receptor Splice Variants: Are they Important?
Current Neuropharmacology Smart Drug-Delivery Systems for Cancer Nanotherapy
Current Drug Targets Doxorubicin: The Good, the Bad and the Ugly Effect
Current Medicinal Chemistry PLCO: Evolution of an Epidemiologic Resource and Opportunities for Future Studies
Reviews on Recent Clinical Trials Expression Profiling of Estrogen Responsive Genes Using Genomic and Proteomic Techniques for the Evaluation of Endocrine Disruptors
Current Pharmacogenomics Versatile Applications of microRNA in Anti-Cancer Drug Discovery: From Therapeutics to Biomarkers
Current Drug Discovery Technologies Plant Secondary Metabolites in Cancer Chemotherapy: Where are We?
Current Pharmaceutical Biotechnology Magnetic Resonance Imaging of the Cervix, and its Relevance to the Revised International Federation of Gynecology and Obstetrics (FIGO) Staging
Current Medical Imaging Discovery of Small Molecules that Target Autophagy for Cancer Treatment
Current Medicinal Chemistry Fetal Mesenchymal Stem Cells in Cancer Therapy
Current Stem Cell Research & Therapy Improved Drug Delivery System for Cancer Treatment by D-Glucose Conjugation with Eugenol From Natural Product
Current Drug Delivery Therapeutic Potentials of Recently Identified PLD Inhibitors
Current Chemical Biology The Place of Somatostatin Analogs in the Diagnosis and Treatment of the Neuoroendocrine Glands Tumors
Recent Patents on Anti-Cancer Drug Discovery Resistance to Intervention: Paclitaxel in Breast Cancer
Mini-Reviews in Medicinal Chemistry Targeting SKCa Channels in Cancer: Potential New Therapeutic Approaches
Current Medicinal Chemistry Anticancer Activity of 5-Benzylidene-2-Phenylimino-1, 3-Thiazolidin-4-one (BPT) Analogs
Medicinal Chemistry Photoacoustic Detection and Imaging of Cancer Using Nanoparticles as Optical Contrast Agents
Recent Patents on Nanomedicine Chartreusin, Elsamicin A and Related Anti-Cancer Antibiotics
Current Medicinal Chemistry - Anti-Cancer Agents Recent Advances in Carbon Nanotubes as Delivery Systems for Anticancer Drugs
Current Medicinal Chemistry