A brief history of human disease genetics
Melina Claussnitzer, Judy H. Cho, Mark I. McCarthy ;
published 8 January, 2020
Nature Article : Source
Introduction :-
A primary goal of human genetics is to identify the DNA sequence variants that is influence the biomedical traits, particularly those related to the onset and progression of human disease.
Over the past 25 years, the progress in realizing this objective has been transformed by advances in the field of technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. And the Genetic discoveries have been substantially improved our understanding of the mechanisms that are responsible for so many rare and common diseases and driven development of novel preventative and therapeutic strategies. And the Medical innovation will be increasingly focus on delivering care tailored to individual patterns of the genetic predisposition.
Human Diseases by Genetic Variation:-
For almost all the human diseases, individual susceptibility is, to some degree, influenced by the genetic variation. However, Consequently, the characterizing of the relations between the sequence of variation and disease predisposition which are provides a powerful tool for the identifying processes of fundamental to disease pathogenesis and highlighting novel strategies for the prevention and treatment.
Rare Diseases & rare Variants:-
Actually the Rare diseases, rare variants During the 1980s and 1990s, the efforts to map disease genes were focused on rare, monogenic and syndromic diseases and were mostly driven by the linkage analysis and fine mapping within the large number of multiplex pedigrees.
Common Disease & Common Variants:-
The Efforts to apply the approach to the linkage analysis in multiplex pedigrees that had been successful for the high-penetrance variants which are responsible for The Mendelian disease. A largely unsuccessful for common, later-onset traits with more complex multifactorial aetiologies, like asthma, diabetes and depression.
Source:- nature.com
For full Text read:- Click here
Melina Claussnitzer, Judy H. Cho, Mark I. McCarthy ;
published 8 January, 2020
Nature Article : Source
Introduction :-
A primary goal of human genetics is to identify the DNA sequence variants that is influence the biomedical traits, particularly those related to the onset and progression of human disease.
Over the past 25 years, the progress in realizing this objective has been transformed by advances in the field of technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. And the Genetic discoveries have been substantially improved our understanding of the mechanisms that are responsible for so many rare and common diseases and driven development of novel preventative and therapeutic strategies. And the Medical innovation will be increasingly focus on delivering care tailored to individual patterns of the genetic predisposition.
Human Diseases by Genetic Variation:-
For almost all the human diseases, individual susceptibility is, to some degree, influenced by the genetic variation. However, Consequently, the characterizing of the relations between the sequence of variation and disease predisposition which are provides a powerful tool for the identifying processes of fundamental to disease pathogenesis and highlighting novel strategies for the prevention and treatment.
Rare Diseases & rare Variants:-
Actually the Rare diseases, rare variants During the 1980s and 1990s, the efforts to map disease genes were focused on rare, monogenic and syndromic diseases and were mostly driven by the linkage analysis and fine mapping within the large number of multiplex pedigrees.
Common Disease & Common Variants:-
The Efforts to apply the approach to the linkage analysis in multiplex pedigrees that had been successful for the high-penetrance variants which are responsible for The Mendelian disease. A largely unsuccessful for common, later-onset traits with more complex multifactorial aetiologies, like asthma, diabetes and depression.
Source:- nature.com
For full Text read:- Click here
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