1. Kor /
  2. Eng

  1. Kor /
  2. Eng

Major AchievementsFollowings are the major outstanding achievements of the SAIHST faculties

[원홍희교수/우수논문] Nature. 2016 Aug 17
No 1
Date 2016/09/05





원홍희 교수

(SAIHST 전임교수)


 Impact Factor('14) = 41.51



2016 Aug 17;536(7616):285-91. doi: 10.1038/nature19057.

Analysis of protein-coding genetic variation in 60,706 humans.



Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence. We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype. Finally, we demonstrate that these data can be used for the efficient filtering of candidate disease-causing variants, and for the discovery of human 'knockout' variants in protein-coding genes. 



원홍희교수 연구소개 [프로필보기]  

 본 연구실은 생물정보학, 통계학, 기계학습 등의 다양한 기법을 적용하여 대규모 유전체 데이터와 EMR로부터 추출한 임상 데이터를 연계하여 다양한 인간 질환의 원인이 되는 유전 변이 및 유전자를 발굴함. 또한, 환자의 유전 프로파일 및 건강 프로파일을 통합하여 질병을 조기에 탐지하고, 예방하며, 맞춤화된 치료를 제안할 수 있는 시스템을 개발함. 본 연구실은 유전체학, 생물정보학, 데이터분석 분야에서 Nature, New England Journal of Medicine, Nature Genetics에 연구 결과를 발표하였고, 40편 이상의 국제논문을 출판함.


Previous Next