.png){kind=icon}
返回
Reference-based phasing using the Haplotype Reference Consortium panel
.png){kind=icon}
OA
AI
DOI：10.1038/ng.3679.png)
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
摘要
En 中文
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally performed via statistical phasing in a genotyped cohort, an approach that can yield high accuracy in very large cohorts but attains lower accuracy in smaller cohorts. Here we instead explore the paradigm of reference-based phasing. We introduce a new phasing algorithm, Eagle2, that attains high accuracy across a broad range of cohort sizes by efficiently leveraging information from large external reference panels (such as the Haplotype Reference Consortium; HRC) using a new data structure based on the positional Burrows-Wheeler transform. We demonstrate that Eagle2 attains a similar to 20x speedup and similar to 10% increase in accuracy compared to reference-based phasing using SHAPEIT2. On European ancestry samples, Eagle2 with the HRC panel achieves >2x the accuracy of 1000 Genomes-based phasing. Eagle2 is open source and freely available for HRC-based phasing via the Sanger Imputation Service and the Michigan Imputation Server.
Keyword:
GENETIC EPIDEMIOLOGY RESEARCH
GENOTYPE IMPUTATION
LINKAGE DISEQUILIBRIUM
ADULT HEALTH
INFERENCE
RECONSTRUCTION
ASSOCIATION
AI总结
对已上传原文的论文进行重点信息的提取，主要内容包括：简要概述、研究摘要、背景介绍、关键亮点、图文解析、展望与总结。
期刊
IF:
40
论文数:
1.0W
被引数:
10.5W
机构
引用论文
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.png)
GENETICSOAAI
GENETICSIF5.1
OAAI分享收藏Removal of fluoride by nature diatomite from high-fluorine water: An appropriate pretreatment for nanofiltration process天然硅藻土去除高氟水中的氟化物: 纳滤工艺的适当预处理Desalination
DesalinationIF0
PREAI
分享收藏Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) CohortGENETICSOAAI
GENETICSIF5.1
OAAI分享收藏
查看更多内容