英国牛津大学Mark I. McCarthy研究团队深入探究人类疾病遗传学简史。相关论文2020年1月8日在线发表在《自然》上。
人类遗传学的主要目标是鉴定影响生物医学特征的DNA序列变异，尤其是那些与人类疾病的发生和发展有关的变异。在过去的25年中，随着技术、基础基因组资源和分析工具的发展以及对大量基因型和表型数据的分析，实现这一目标的进展已经发生了转变。遗传发现大大提高了人们对引起许多罕见和常见疾病的机制的理解，并推动了新的预防和治疗策略的发展。医学创新将越来越集中于提供针对个体遗传倾向模式护理。
附：英文原文
Title: A brief history of human disease genetics
Author: Melina Claussnitzer, Judy H. Cho, Rory Collins, Nancy J. Cox, Emmanouil T. Dermitzakis, Matthew E. Hurles, Sekar Kathiresan, Eimear E. Kenny, Cecilia M. Lindgren, Daniel G. MacArthur, Kathryn N. North, Sharon E. Plon, Heidi L. Rehm, Neil Risch, Charles N. Rotimi, Jay Shendure, Nicole Soranzo, Mark I. McCarthy
Issue&Volume: 2020-01-08
Abstract: A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition. This Review describes progress in the study of human genetics, in which rapid advances in technology, foundational genomic resources and analytical tools have contributed to the understanding of the mechanisms responsible for many rare and common diseases and to preventative and therapeutic strategies for many of these conditions.
DOI: 10.1038/s41586-019-1879-7
Source:https://www.nature.com/articles/s41586-019-1879-7
Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html
本期文章：《自然》：Online/在线发表
