Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing

Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that co...
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Gespeichert in:

Autor*in:	Ezewudo, Matthew [verfasserIn] Zwick, Michael E. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	Human genetics Genomics Genetic architecture Complex traits Next-generation sequencing Targeted enrichment Single nucleotide variants SNVs Single nucleotide polymorphisms SNPs Structural variation Copy number variants CNVs Complex neuropsychiatric disorders Schizophrenia Autism Genetic disorders Psychiatry

Übergeordnetes Werk:	Enthalten in: Current psychiatry reports - Philadelphia, Pa. : Current Science Inc., 1999, 15(2013), 4 vom: 24. Feb.
Übergeordnetes Werk:	volume:15 ; year:2013 ; number:4 ; day:24 ; month:02

Links:	Volltext

DOI / URN:	10.1007/s11920-013-0349-4

Katalog-ID:	SPR023021519

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520			\|a Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings.
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matchkey_str	article:15351645:2013----::vlaigaeainsnopedsressnnxg
hierarchy_sort_str	2013
bklnumber	44.91
publishDate	2013
allfields	10.1007/s11920-013-0349-4 doi (DE-627)SPR023021519 (SPR)s11920-013-0349-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.91 bkl Ezewudo, Matthew verfasserin aut Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings. Human genetics (dpeaa)DE-He213 Genomics (dpeaa)DE-He213 Genetic architecture (dpeaa)DE-He213 Complex traits (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Targeted enrichment (dpeaa)DE-He213 Single nucleotide variants (dpeaa)DE-He213 SNVs (dpeaa)DE-He213 Single nucleotide polymorphisms (dpeaa)DE-He213 SNPs (dpeaa)DE-He213 Structural variation (dpeaa)DE-He213 Copy number variants (dpeaa)DE-He213 CNVs (dpeaa)DE-He213 Complex neuropsychiatric disorders (dpeaa)DE-He213 Schizophrenia (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Genetic disorders (dpeaa)DE-He213 Psychiatry (dpeaa)DE-He213 Zwick, Michael E. verfasserin aut Enthalten in Current psychiatry reports Philadelphia, Pa. : Current Science Inc., 1999 15(2013), 4 vom: 24. Feb. (DE-627)345293029 (DE-600)2076144-2 1535-1645 nnns volume:15 year:2013 number:4 day:24 month:02 https://dx.doi.org/10.1007/s11920-013-0349-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.91 ASE AR 15 2013 4 24 02
spelling	10.1007/s11920-013-0349-4 doi (DE-627)SPR023021519 (SPR)s11920-013-0349-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.91 bkl Ezewudo, Matthew verfasserin aut Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings. Human genetics (dpeaa)DE-He213 Genomics (dpeaa)DE-He213 Genetic architecture (dpeaa)DE-He213 Complex traits (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Targeted enrichment (dpeaa)DE-He213 Single nucleotide variants (dpeaa)DE-He213 SNVs (dpeaa)DE-He213 Single nucleotide polymorphisms (dpeaa)DE-He213 SNPs (dpeaa)DE-He213 Structural variation (dpeaa)DE-He213 Copy number variants (dpeaa)DE-He213 CNVs (dpeaa)DE-He213 Complex neuropsychiatric disorders (dpeaa)DE-He213 Schizophrenia (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Genetic disorders (dpeaa)DE-He213 Psychiatry (dpeaa)DE-He213 Zwick, Michael E. verfasserin aut Enthalten in Current psychiatry reports Philadelphia, Pa. : Current Science Inc., 1999 15(2013), 4 vom: 24. Feb. (DE-627)345293029 (DE-600)2076144-2 1535-1645 nnns volume:15 year:2013 number:4 day:24 month:02 https://dx.doi.org/10.1007/s11920-013-0349-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.91 ASE AR 15 2013 4 24 02
allfields_unstemmed	10.1007/s11920-013-0349-4 doi (DE-627)SPR023021519 (SPR)s11920-013-0349-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.91 bkl Ezewudo, Matthew verfasserin aut Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings. Human genetics (dpeaa)DE-He213 Genomics (dpeaa)DE-He213 Genetic architecture (dpeaa)DE-He213 Complex traits (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Targeted enrichment (dpeaa)DE-He213 Single nucleotide variants (dpeaa)DE-He213 SNVs (dpeaa)DE-He213 Single nucleotide polymorphisms (dpeaa)DE-He213 SNPs (dpeaa)DE-He213 Structural variation (dpeaa)DE-He213 Copy number variants (dpeaa)DE-He213 CNVs (dpeaa)DE-He213 Complex neuropsychiatric disorders (dpeaa)DE-He213 Schizophrenia (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Genetic disorders (dpeaa)DE-He213 Psychiatry (dpeaa)DE-He213 Zwick, Michael E. verfasserin aut Enthalten in Current psychiatry reports Philadelphia, Pa. : Current Science Inc., 1999 15(2013), 4 vom: 24. Feb. (DE-627)345293029 (DE-600)2076144-2 1535-1645 nnns volume:15 year:2013 number:4 day:24 month:02 https://dx.doi.org/10.1007/s11920-013-0349-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.91 ASE AR 15 2013 4 24 02
allfieldsGer	10.1007/s11920-013-0349-4 doi (DE-627)SPR023021519 (SPR)s11920-013-0349-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.91 bkl Ezewudo, Matthew verfasserin aut Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings. Human genetics (dpeaa)DE-He213 Genomics (dpeaa)DE-He213 Genetic architecture (dpeaa)DE-He213 Complex traits (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Targeted enrichment (dpeaa)DE-He213 Single nucleotide variants (dpeaa)DE-He213 SNVs (dpeaa)DE-He213 Single nucleotide polymorphisms (dpeaa)DE-He213 SNPs (dpeaa)DE-He213 Structural variation (dpeaa)DE-He213 Copy number variants (dpeaa)DE-He213 CNVs (dpeaa)DE-He213 Complex neuropsychiatric disorders (dpeaa)DE-He213 Schizophrenia (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Genetic disorders (dpeaa)DE-He213 Psychiatry (dpeaa)DE-He213 Zwick, Michael E. verfasserin aut Enthalten in Current psychiatry reports Philadelphia, Pa. : Current Science Inc., 1999 15(2013), 4 vom: 24. Feb. (DE-627)345293029 (DE-600)2076144-2 1535-1645 nnns volume:15 year:2013 number:4 day:24 month:02 https://dx.doi.org/10.1007/s11920-013-0349-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.91 ASE AR 15 2013 4 24 02
allfieldsSound	10.1007/s11920-013-0349-4 doi (DE-627)SPR023021519 (SPR)s11920-013-0349-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.91 bkl Ezewudo, Matthew verfasserin aut Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings. Human genetics (dpeaa)DE-He213 Genomics (dpeaa)DE-He213 Genetic architecture (dpeaa)DE-He213 Complex traits (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Targeted enrichment (dpeaa)DE-He213 Single nucleotide variants (dpeaa)DE-He213 SNVs (dpeaa)DE-He213 Single nucleotide polymorphisms (dpeaa)DE-He213 SNPs (dpeaa)DE-He213 Structural variation (dpeaa)DE-He213 Copy number variants (dpeaa)DE-He213 CNVs (dpeaa)DE-He213 Complex neuropsychiatric disorders (dpeaa)DE-He213 Schizophrenia (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Genetic disorders (dpeaa)DE-He213 Psychiatry (dpeaa)DE-He213 Zwick, Michael E. verfasserin aut Enthalten in Current psychiatry reports Philadelphia, Pa. : Current Science Inc., 1999 15(2013), 4 vom: 24. Feb. (DE-627)345293029 (DE-600)2076144-2 1535-1645 nnns volume:15 year:2013 number:4 day:24 month:02 https://dx.doi.org/10.1007/s11920-013-0349-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.91 ASE AR 15 2013 4 24 02
language	English
source	Enthalten in Current psychiatry reports 15(2013), 4 vom: 24. Feb. volume:15 year:2013 number:4 day:24 month:02
sourceStr	Enthalten in Current psychiatry reports 15(2013), 4 vom: 24. Feb. volume:15 year:2013 number:4 day:24 month:02
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Human genetics Genomics Genetic architecture Complex traits Next-generation sequencing Targeted enrichment Single nucleotide variants SNVs Single nucleotide polymorphisms SNPs Structural variation Copy number variants CNVs Complex neuropsychiatric disorders Schizophrenia Autism Genetic disorders Psychiatry
dewey-raw	610
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container_title	Current psychiatry reports
authorswithroles_txt_mv	Ezewudo, Matthew @@aut@@ Zwick, Michael E. @@aut@@
publishDateDaySort_date	2013-02-24T00:00:00Z
hierarchy_top_id	345293029
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id	SPR023021519
language_de	englisch
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author	Ezewudo, Matthew
spellingShingle	Ezewudo, Matthew ddc 610 bkl 44.91 misc Human genetics misc Genomics misc Genetic architecture misc Complex traits misc Next-generation sequencing misc Targeted enrichment misc Single nucleotide variants misc SNVs misc Single nucleotide polymorphisms misc SNPs misc Structural variation misc Copy number variants misc CNVs misc Complex neuropsychiatric disorders misc Schizophrenia misc Autism misc Genetic disorders misc Psychiatry Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing
authorStr	Ezewudo, Matthew
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topic_title	610 ASE 44.91 bkl Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing Human genetics (dpeaa)DE-He213 Genomics (dpeaa)DE-He213 Genetic architecture (dpeaa)DE-He213 Complex traits (dpeaa)DE-He213 Next-generation sequencing (dpeaa)DE-He213 Targeted enrichment (dpeaa)DE-He213 Single nucleotide variants (dpeaa)DE-He213 SNVs (dpeaa)DE-He213 Single nucleotide polymorphisms (dpeaa)DE-He213 SNPs (dpeaa)DE-He213 Structural variation (dpeaa)DE-He213 Copy number variants (dpeaa)DE-He213 CNVs (dpeaa)DE-He213 Complex neuropsychiatric disorders (dpeaa)DE-He213 Schizophrenia (dpeaa)DE-He213 Autism (dpeaa)DE-He213 Genetic disorders (dpeaa)DE-He213 Psychiatry (dpeaa)DE-He213
topic	ddc 610 bkl 44.91 misc Human genetics misc Genomics misc Genetic architecture misc Complex traits misc Next-generation sequencing misc Targeted enrichment misc Single nucleotide variants misc SNVs misc Single nucleotide polymorphisms misc SNPs misc Structural variation misc Copy number variants misc CNVs misc Complex neuropsychiatric disorders misc Schizophrenia misc Autism misc Genetic disorders misc Psychiatry
topic_unstemmed	ddc 610 bkl 44.91 misc Human genetics misc Genomics misc Genetic architecture misc Complex traits misc Next-generation sequencing misc Targeted enrichment misc Single nucleotide variants misc SNVs misc Single nucleotide polymorphisms misc SNPs misc Structural variation misc Copy number variants misc CNVs misc Complex neuropsychiatric disorders misc Schizophrenia misc Autism misc Genetic disorders misc Psychiatry
topic_browse	ddc 610 bkl 44.91 misc Human genetics misc Genomics misc Genetic architecture misc Complex traits misc Next-generation sequencing misc Targeted enrichment misc Single nucleotide variants misc SNVs misc Single nucleotide polymorphisms misc SNPs misc Structural variation misc Copy number variants misc CNVs misc Complex neuropsychiatric disorders misc Schizophrenia misc Autism misc Genetic disorders misc Psychiatry
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title	Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing
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title_full	Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing
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author_browse	Ezewudo, Matthew Zwick, Michael E.
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title_sort	evaluating rare variants in complex disorders using next-generation sequencing
title_auth	Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing
abstract	Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings.
abstractGer	Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings.
abstract_unstemmed	Abstract Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings.
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title_short	Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing
url	https://dx.doi.org/10.1007/s11920-013-0349-4
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