메뉴 건너뛰기




Volumn 17, Issue 6, 2014, Pages 756-763

Genome-scale neurogenetics: Methodology and meaning

Author keywords

[No Author keywords available]

Indexed keywords

ATTENTION DEFICIT DISORDER; AUTISM; BIPOLAR DISORDER; BRAIN FUNCTION; CONVERGENT EVOLUTION; COPY NUMBER VARIATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; MAJOR DEPRESSION; MEDICAL GENETICS; NEUROBIOLOGY; NEUROPATHOLOGY; NEUROPSYCHIATRY; NONHUMAN; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84901596062     PISSN: 10976256     EISSN: 15461726     Source Type: Journal    
DOI: 10.1038/nn.3716     Document Type: Review
Times cited : (68)

References (47)
  • 1
  • 2
    • 84890528022 scopus 로고    scopus 로고
    • Biomarker modeling of Alzheimer's disease
    • Jack, C.R. Jr. & Holtzman, D.M. Biomarker modeling of Alzheimer's disease. Neuron 80, 1347-1358 (2013).
    • (2013) Neuron , vol.80 , pp. 1347-1358
    • Jack Jr., C.R.1    Holtzman, D.M.2
  • 3
    • 84863980709 scopus 로고    scopus 로고
    • Genetic architectures of psychiatric disorders: The emerging picture and its implications
    • Sullivan, P.F., Daly, M.J. & O'Donovan, M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat. Rev. Genet. 13, 537-551 (2012).
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 537-551
    • Sullivan, P.F.1    Daly, M.J.2    O'Donovan, M.3
  • 4
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang, J. et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42, 565-569 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 565-569
    • Yang, J.1
  • 5
    • 84876296688 scopus 로고    scopus 로고
    • Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis
    • Cross-Disorder Group of the Psychiatric Genomics Consortium and Genetic Risk Outcome of Psychosis (GROUP) Consortium
    • Cross-Disorder Group of the Psychiatric Genomics Consortium and Genetic Risk Outcome of Psychosis (GROUP) Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 381, 1371-1379 (2013).
    • (2013) Lancet , vol.381 , pp. 1371-1379
  • 6
    • 0034666043 scopus 로고    scopus 로고
    • Are schizophrenic and bipolar disorders related? A review of family and molecular studies
    • Berrettini, W.H. Are schizophrenic and bipolar disorders related? A review of family and molecular studies. Biol. Psychiatry 48, 531-538 (2000).
    • (2000) Biol. Psychiatry , vol.48 , pp. 531-538
    • Berrettini, W.H.1
  • 7
    • 84883465830 scopus 로고    scopus 로고
    • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
    • Lee, S.H. et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat. Genet. 45, 984-994 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 984-994
    • Lee, S.H.1
  • 8
    • 0003472502 scopus 로고    scopus 로고
    • American Psychiatric Association. 5th edn. (APA, Washington, DC, USA)
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders 5th edn. (APA, Washington, DC, USA, 2013).
    • (2013) Diagnostic and Statistical Manual of Mental Disorders
  • 10
    • 34548011214 scopus 로고    scopus 로고
    • Can neuroscience be integrated into the DSM-V?
    • Hyman, S.E. Can neuroscience be integrated into the DSM-V? Nat. Rev. Neurosci. 8, 725-732 (2007).
    • (2007) Nat. Rev. Neurosci. , vol.8 , pp. 725-732
    • Hyman, S.E.1
  • 11
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap Consortium
    • The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 12
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • Altshuler, D.M. et al. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010).
    • (2010) Nature , vol.467 , pp. 52-58
    • Altshuler, D.M.1
  • 13
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • The 1000 Genomes Project Consortium
    • The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 14
    • 79952194317 scopus 로고    scopus 로고
    • Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
    • Handsaker, R.E., Korn, J.M., Nemesh, J. & McCarroll, S.A. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat. Genet. 43, 269-276 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 269-276
    • Handsaker, R.E.1    Korn, J.M.2    Nemesh, J.3    McCarroll, S.A.4
  • 16
    • 84893904007 scopus 로고    scopus 로고
    • A polygenic burden of rare disruptive mutations in schizophrenia
    • Purcell, S.M. et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 506, 185-190 (2014).
    • (2014) Nature , vol.506 , pp. 185-190
    • Purcell, S.M.1
  • 17
    • 84893919352 scopus 로고    scopus 로고
    • De novo mutations in schizophrenia implicate synaptic networks
    • Fromer, M. et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 506, 179-184 (2014).
    • (2014) Nature , vol.506 , pp. 179-184
    • Fromer, M.1
  • 18
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders, S.J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012).
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1
  • 19
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • Iossifov, I. et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012).
    • (2012) Neuron , vol.74 , pp. 285-299
    • Iossifov, I.1
  • 20
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale, B.M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012).
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1
  • 21
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak, B.J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012).
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1
  • 22
    • 84888317489 scopus 로고    scopus 로고
    • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
    • Lambert, J.C. et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat. Genet. 45, 1452-1458 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1452-1458
    • Lambert, J.C.1
  • 23
    • 80053385384 scopus 로고    scopus 로고
    • Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
    • Psychiatric G.C.B.D.W.G. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat. Genet. 43, 977-983 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 977-983
    • Psychiatric, G.C.B.D.W.G.1
  • 24
    • 84885020424 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies 13 new risk loci for schizophrenia
    • Ripke, S. et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet. 45, 1150-1159 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1150-1159
    • Ripke, S.1
  • 25
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski, I. et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119, 19-31 (2004).
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1
  • 26
    • 84873729095 scopus 로고    scopus 로고
    • Multiplex genome engineering using CRISPR/Cas systems
    • Cong, L. et al. Multiplex genome engineering using CRISPR/Cas systems. Science 339, 819-823 (2013).
    • (2013) Science , vol.339 , pp. 819-823
    • Cong, L.1
  • 27
    • 84873734105 scopus 로고    scopus 로고
    • RNA-guided human genome engineering via Cas9
    • Mali, P. et al. RNA-guided human genome engineering via Cas9. Science 339, 823-826 (2013).
    • (2013) Science , vol.339 , pp. 823-826
    • Mali, P.1
  • 28
    • 77955499945 scopus 로고    scopus 로고
    • From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
    • Musunuru, K. et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466, 714-719 (2010).
    • (2010) Nature , vol.466 , pp. 714-719
    • Musunuru, K.1
  • 29
    • 50449091647 scopus 로고    scopus 로고
    • Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    • McCarroll, S.A. et al. Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat. Genet. 40, 1107-1112 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 1107-1112
    • McCarroll, S.A.1
  • 30
    • 84885620722 scopus 로고    scopus 로고
    • An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level
    • Bauer, D.E. et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342, 253-257 (2013).
    • (2013) Science , vol.342 , pp. 253-257
    • Bauer, D.E.1
  • 31
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • The ENCODE Project Consortium
    • The ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57-74 (2012).
    • (2012) Nature , vol.489 , pp. 57-74
  • 32
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur, D.G. et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823-828 (2012).
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1
  • 33
    • 84881193129 scopus 로고    scopus 로고
    • Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
    • Gulsuner, S. et al. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell 154, 518-529 (2013).
    • (2013) Cell , vol.154 , pp. 518-529
    • Gulsuner, S.1
  • 34
    • 84861535692 scopus 로고    scopus 로고
    • The best of times, the worst of times for psychiatric disease
    • Karayiorgou, M., Flint, J., Gogos, J.A. & Malenka, R.C. The best of times, the worst of times for psychiatric disease. Nat. Neurosci. 15, 811-812 (2012).
    • (2012) Nat. Neurosci. , vol.15 , pp. 811-812
    • Karayiorgou, M.1    Flint, J.2    Gogos, J.A.3    Malenka, R.C.4
  • 35
    • 34548147472 scopus 로고    scopus 로고
    • Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice
    • Welch, J.M. et al. Cortico-striatal synaptic defects and OCD-like behaviours in Sapap3-mutant mice. Nature 448, 894-900 (2007).
    • (2007) Nature , vol.448 , pp. 894-900
    • Welch, J.M.1
  • 36
    • 79952264040 scopus 로고    scopus 로고
    • Prefrontal cortical circuits in schizophrenia
    • Volk, D.W. & Lewis, D.A. Prefrontal cortical circuits in schizophrenia. Curr. Top. Behav. Neurosci. 4, 485-508 (2010).
    • (2010) Curr. Top. Behav. Neurosci. , vol.4 , pp. 485-508
    • Volk, D.W.1    Lewis, D.A.2
  • 37
    • 0028907956 scopus 로고
    • Do rats have prefrontal cortex? The rose-woolsey-akert program reconsidered
    • Preuss, T.M. Do rats have prefrontal cortex? The rose-woolsey-akert program reconsidered. J. Cogn. Neurosci. 7, 1-24 (1995).
    • (1995) J. Cogn. Neurosci. , vol.7 , pp. 1-24
    • Preuss, T.M.1
  • 38
    • 84868301266 scopus 로고    scopus 로고
    • The common marmoset as a novel animal model system for biomedical and neuroscience research applications
    • Okano, H., Hikishima, K., Iriki, A. & Sasaki, E. The common marmoset as a novel animal model system for biomedical and neuroscience research applications. Semin. Fetal Neonatal Med. 17, 336-340 (2012).
    • (2012) Semin. Fetal Neonatal Med. , vol.17 , pp. 336-340
    • Okano, H.1    Hikishima, K.2    Iriki, A.3    Sasaki, E.4
  • 39
    • 77957273984 scopus 로고    scopus 로고
    • Animal models of neuropsychiatric disorders
    • Nestler, E.J. & Hyman, S.E. Animal models of neuropsychiatric disorders. Nat. Neurosci. 13, 1161-1169 (2010).
    • (2010) Nat. Neurosci. , vol.13 , pp. 1161-1169
    • Nestler, E.J.1    Hyman, S.E.2
  • 40
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
    • Cohen, J. et al. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 37, 161-165 (2005).
    • (2005) Nat. Genet. , vol.37 , pp. 161-165
    • Cohen, J.1
  • 41
    • 84893378179 scopus 로고    scopus 로고
    • Searching for missing heritability: Designing rare variant association studies
    • Zuk, O. et al. Searching for missing heritability: designing rare variant association studies. Proc. Natl. Acad. Sci. USA 111, E455-E464 (2014).
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111
    • Zuk, O.1
  • 42
    • 70349956425 scopus 로고    scopus 로고
    • A genome-wide linkage and association scan reveals novel loci for autism
    • Weiss, L.A. et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 461, 802-808 (2009).
    • (2009) Nature , vol.461 , pp. 802-808
    • Weiss, L.A.1
  • 43
    • 68449086236 scopus 로고    scopus 로고
    • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
    • The International Schizophrenia Consortium et al
    • The International Schizophrenia Consortium et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748-752 (2009).
    • (2009) Nature , vol.460 , pp. 748-752
  • 44
    • 84893611579 scopus 로고    scopus 로고
    • Analysis of copy number variations at 15 schizophrenia-associated loci
    • Rees, E. et al. Analysis of copy number variations at 15 schizophrenia-associated loci. Br. J. Psychiatry 204, 108-114 (2014).
    • (2014) Br. J. Psychiatry , vol.204 , pp. 108-114
    • Rees, E.1
  • 45
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders, S.J. et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863-885 (2011).
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1
  • 46
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • Abecasis, G.R. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56-65 (2012).
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1
  • 47
    • 84864471159 scopus 로고    scopus 로고
    • A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
    • Jonsson, T. et al. A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 488, 96-99 (2012).
    • (2012) Nature , vol.488 , pp. 96-99
    • Jonsson, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.