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Whole genome sequen...
Whole genome sequencing study of identical twins discordant for psychosis
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- Ormond, Cathal (författare)
- Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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- Ryan, Niamh M. (författare)
- Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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- Hedman, Anna M. (författare)
- Department of Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
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- Cannon, Tyrone D. (författare)
- Departments of Psychology and Psychiatry, Yale University School of Medicine, CT, New Haven, United States
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- Sullivan, Patrick F. (författare)
- Department of Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Departments of Genetics and Psychiatry, University of North Carolina, NC, Chapel Hill, United States
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- Gill, Michael (författare)
- Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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- Hultman, Christina (författare)
- Department of Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
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- Heron, Elizabeth A. (författare)
- Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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- Johansson, Viktoria (författare)
- Umeå universitet,Psykiatri,Department of Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
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- Corvin, Aiden (författare)
- Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
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(creator_code:org_t)
- Springer Nature, 2024
- 2024
- Engelska.
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Ingår i: Translational Psychiatry. - : Springer Nature. - 2158-3188. ; 14:1
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Monozygotic (MZ) twins are often thought to have identical genomes, but recent work has shown that early post-zygotic events can result in a spectrum of DNA variants that are different between MZ twins. Such variants may explain phenotypic discordance and contribute to disease etiology. Here we performed whole genome sequencing in 17 pairs of MZ twins discordant for a psychotic disorder (schizophrenia, schizoaffective disorder or bipolar disorder). We examined various classes of rare variants that are discordant within a twin pair. We identified four genes harboring rare, predicted deleterious missense variants that were private to an affected individual in the cohort. Variants in FOXN1 and FLOT2 would have been categorized as damaging from recent schizophrenia and bipolar exome sequencing studies. Additionally, we identified four rare genic copy number variants (CNVs) private to an affected sample, two of which overlapped genes that have shown evidence for association with schizophrenia or bipolar disorder. One such CNV was a 3q29 duplication previously implicated in autism and developmental delay. We have performed the largest MZ twin study for discordant psychotic phenotypes to date. These findings warrant further investigation using other analytical approaches.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
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Till lärosätets databas
- Av författaren/redakt...
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Ormond, Cathal
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Ryan, Niamh M.
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Hedman, Anna M.
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Cannon, Tyrone D ...
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Sullivan, Patric ...
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Gill, Michael
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Hultman, Christi ...
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Heron, Elizabeth ...
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Johansson, Vikto ...
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Corvin, Aiden
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Psykiatri
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Neurovetenskaper
- Artiklar i publikationen
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Translational Ps ...
- Av lärosätet
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Umeå universitet
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Karolinska Institutet