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DESCRIPTION (provided by applicant): Major depression is a serious psychiatric disorder impacting the lives of millions of Americans. The gene DISC1 has been linked to this disorder by translocation in a single Scottish family as well as being supported by functional analyses of the gene prominent in neural development. We propose to carry out whole genome sequencing on 40 members of the original translocation family to identify possible variants that modify the effec of the translocation on phenotype as well as examine epigenetic differences in those that bear the translocation. We will also carry out genetic analyses by both genotyping and targeted sequencing to look for genetic differences in DISC1 and its core pathway genes in a total of nearly 10,000 people. Lastly, we will examine blood samples from some of those individuals with variants in the core pathway to determine if these variants change gene expression.
期刊论文(6)
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会议论文
DOI: 10.1038/mp.2017.115
发表时间: 2018-05
期刊: Molecular psychiatry
影响因子: 11
作者: [Teng S, Thomson PA, McCarthy S, Kramer M, Muller S, Lihm J, Morris S, Soares DC, Hennah W, Harris S, Camargo LM, Malkov V, McIntosh AM, Millar JK, Blackwood DH, Evans KL, Deary IJ, Porteous DJ, McCombie WR]
通讯作者: McCombie WR
DOI: 10.1186/s13073-014-0079-1
发表时间: 2014
期刊: Genome medicine
影响因子: 12.3
作者: [Ryan NM, Morris SW, Porteous DJ, Taylor MS, Evans KL]
通讯作者: Evans KL
DOI: 10.1186/s13148-016-0171-z
发表时间: 2016
期刊: Clinical epigenetics
影响因子: 5.7
作者: [Walker RM, Christoforou AN, McCartney DL, Morris SW, Kennedy NA, Morten P, Anderson SM, Torrance HS, Macdonald A, Sussmann JE, Whalley HC, Blackwood DH, McIntosh AM, Porteous DJ, Evans KL]
通讯作者: Evans KL
DOI: 10.1016/j.jpsychires.2015.01.006
发表时间: 2015-03
期刊: JOURNAL OF PSYCHIATRIC RESEARCH
影响因子: 4.8
作者: [Walker, Rosie May, Rybka, Joanna, Anderson, Susan Maguire, Torrance, Helen Scott, Boxall, Ruth, Sussmann, Jessika Elizabeth, Porteous, David John, McIntosh, Andrew Mark, Evans, Kathryn Louise]
通讯作者: Evans, Kathryn Louise
Training and Education Program
  • 批准号:
    9038102
  • 项目类别:
  • 资助金额:
    $3.24万
  • 财政年份:
    2015
  • 负责人:
    William Richard McCombie
  • 依托单位:
Next Generation DNA Sequencer
  • 批准号:
    8826440
  • 项目类别:
  • 资助金额:
    $52.31万
  • 财政年份:
    2015
  • 负责人:
    William Richard McCombie
  • 依托单位:
2/2 Partnership to Study Racial/Ethnic Differences in GI Cancer Biology
  • 批准号:
    9150533
  • 项目类别:
  • 资助金额:
    $15.52万
  • 财政年份:
    2015
  • 负责人:
    William Richard McCombie
  • 依托单位:
Pilot 1: Genomic and epigenomic profiling of colon cancers in racial and ethnic minority patients
  • 批准号:
    9038100
  • 项目类别:
  • 资助金额:
    $4.44万
  • 财政年份:
    2015
  • 负责人:
    William Richard McCombie
  • 依托单位:
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