A Humán Genom Projekt, genetikai variabilitás és genetikai epidemiológia

Translated title of the contribution: The Human Genome Project, genetic variability and genetic epidemiology

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

The goal of the Human Genome Project to elucidate the complete sequence of the human genome has been achieved. The aims of the "post-genome" era are explaining the genetic information, characterisation of functional elements encoded in the human genome and mapping the human genetic variability as well. Two unrelated human beings also share 99.9% of their genomic sequence. The difference of 0.1% is the result of genetic polymorphisms: single nucleotide polymorphisms, repetitive sequences and insertion/deletion. The genetic differences, coupled with environmental exposures will determine the phenotypic variation we observe in health or disease. The disease-causing genetic variants can be identified by linkage analysis or association studies. The knowledge of human genome and application of multiple biomarkers will improve our ability to identify individuals at risk, so that preventive interventions can be applied, earlier diagnosis can be made and treatment can be optimized.

Original languageHungarian
Pages (from-to)2575-2580
Number of pages6
JournalOrvosi Hetilap
Volume146
Issue number51
Publication statusPublished - 2005

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Human Genome Project
Molecular Epidemiology
Human Genome
Inborn Genetic Diseases
Sequence Deletion
Nucleic Acid Repetitive Sequences
Insertional Mutagenesis
Chromosome Mapping
Environmental Exposure
Medical Genetics
Genetic Polymorphisms
Single Nucleotide Polymorphism
Early Diagnosis
Biomarkers
Genome
Health

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A Humán Genom Projekt, genetikai variabilitás és genetikai epidemiológia. / Hagymási, K.; Tulassay, Z.

In: Orvosi Hetilap, Vol. 146, No. 51, 2005, p. 2575-2580.

Research output: Contribution to journalArticle

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