The origin, the function and the phenotypic impact of human alleles

人类等位基因的起源、功能和表型影响

基本信息

  • 批准号:
    10623515
  • 负责人:
  • 金额:
    $ 90.48万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2018
  • 资助国家:
    美国
  • 起止时间:
    2018-05-11 至 2028-08-31
  • 项目状态:
    未结题

项目摘要

Project Summary All populations are genetically variable, and humans, as well as the populations of somatic cells in their bodies, are no exception. Genetic variation explains much of phenotype variation and partially determines the risk of common and rare disease. Analysis of the functional effects of allelic variants opens a unique perspective on molecular function in the broad organismal context. Study of genetic variation provides understanding of the actions of evolution over short timescales and helps detect footprints of natural selection that point to uncharacterized functional elements of the genome. The explosion of sequencing datasets in combination with new computational and statistical techniques, propel genetic variation research. Our lab plans to be at the forefront of this endeavor. Our broad research program will analyze genetic variation from multiple angles. We will study mutagenesis as the origin of genetic variation, and use statistical analysis—in the context of known DNA replication and repair biology—to infer mutagenic mechanisms. We will develop computational methods to analyze and predict the effect of human allelic variants on molecular function. We will also study the evolutionary forces governing the fate of alleles in populations, in order to better understand the persistence of deleterious variation. Additionally, we will examine the principles of the relationship between genotype and phenotype, including both polygenic inheritance and the partial penetrance of rare disease variants. These topics—the origins, persistence, and effects of variants—are intertwined, and their integrated understanding is critical to the progress of human medical genetics and cancer genomics.
项目总结

项目成果

期刊论文数量(2)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Polygenic adaptation of rosette growth in Arabidopsis thaliana.
拟南芥中玫瑰花结的多基因适应。
  • DOI:
    10.1371/journal.pgen.1008748
  • 发表时间:
    2021-01
  • 期刊:
  • 影响因子:
    4.5
  • 作者:
    Wieters B;Steige KA;He F;Koch EM;Ramos-Onsins SE;Gu H;Guo YL;Sunyaev S;de Meaux J
  • 通讯作者:
    de Meaux J
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SHAMIL SUNYAEV其他文献

SHAMIL SUNYAEV的其他文献

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{{ truncateString('SHAMIL SUNYAEV', 18)}}的其他基金

Rare and common variants in complex disease
复杂疾病中的罕见和常见变异
  • 批准号:
    10554006
  • 财政年份:
    2022
  • 资助金额:
    $ 90.48万
  • 项目类别:
The origin, the function and the phenotypic impact of human alleles
人类等位基因的起源、功能和表型影响
  • 批准号:
    10441144
  • 财政年份:
    2018
  • 资助金额:
    $ 90.48万
  • 项目类别:
The origin, the function and the phenotypic impact of human alleles
人类等位基因的起源、功能和表型影响
  • 批准号:
    10553953
  • 财政年份:
    2018
  • 资助金额:
    $ 90.48万
  • 项目类别:
The origin, the function and the phenotypic impact of human alleles
人类等位基因的起源、功能和表型影响
  • 批准号:
    10152624
  • 财政年份:
    2018
  • 资助金额:
    $ 90.48万
  • 项目类别:
Improving Polygenic Prediction using Next-Generation Data Sets
使用下一代数据集改进多基因预测
  • 批准号:
    8632422
  • 财政年份:
    2014
  • 资助金额:
    $ 90.48万
  • 项目类别:
Improving Polygenic Prediction using Next-Generation Data Sets
使用下一代数据集改进多基因预测
  • 批准号:
    8862508
  • 财政年份:
    2014
  • 资助金额:
    $ 90.48万
  • 项目类别:
Improving Polygenic Prediction using Next-Generation Data Sets
使用下一代数据集改进多基因预测
  • 批准号:
    9245712
  • 财政年份:
    2014
  • 资助金额:
    $ 90.48万
  • 项目类别:
Improving Polygenic Prediction using Next-Generation Data Sets
使用下一代数据集改进多基因预测
  • 批准号:
    9031772
  • 财政年份:
    2014
  • 资助金额:
    $ 90.48万
  • 项目类别:
Statistical methods for studies of rare variants
研究罕见变异的统计方法
  • 批准号:
    8904723
  • 财政年份:
    2013
  • 资助金额:
    $ 90.48万
  • 项目类别:
Statistical methods for studies of rare variants
研究罕见变异的统计方法
  • 批准号:
    9116300
  • 财政年份:
    2013
  • 资助金额:
    $ 90.48万
  • 项目类别:

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