메뉴 건너뛰기




Volumn 29, Issue 19, 2013, Pages 2419-2426

Assessing association between protein truncating variants and quantitative traits

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN C3; TRIACYLGLYCEROL;

EID: 84897368044     PISSN: 13674803     EISSN: 14602059     Source Type: Journal    
DOI: 10.1093/bioinformatics/btt409     Document Type: Article
Times cited : (16)

References (29)
  • 1
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei,I.A. et al. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
    • (2010) Nat. Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 2
    • 84865019673 scopus 로고    scopus 로고
    • Comparison of statistical tests for association between rare variants and binary traits
    • Bacanu,S.A. et al. (2012) Comparison of statistical tests for association between rare variants and binary traits. PloS One, 7, e42530.
    • (2012) PloS One , vol.7
    • Bacanu, S.A.1
  • 3
    • 80054728031 scopus 로고    scopus 로고
    • Comparison of statistical tests for disease association with rare variants
    • Basu,S. and Pan,W. (2011) Comparison of statistical tests for disease association with rare variants. Genet. Epidemiol., 35, 606-619.
    • (2011) Genet. Epidemiol. , vol.35 , pp. 606-619
    • Basu, S.1    Pan, W.2
  • 4
    • 84857654651 scopus 로고    scopus 로고
    • Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
    • Bonnefond,A. et al. (2012) Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat. Genet., 44, 297-301.
    • (2012) Nat. Genet. , vol.44 , pp. 297-301
    • Bonnefond, A.1
  • 5
    • 82255186531 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
    • Chen,W.J. et al. (2011) Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat. Genet., 43, 1252-1255.
    • (2011) Nat. Genet. , vol.43 , pp. 1252-1255
    • Chen, W.J.1
  • 6
    • 13944265645 scopus 로고    scopus 로고
    • Low LDL cholesterol in individuals of african descent resulting from frequent nonsense mutations in PCSK9
    • Cohen,J. et al. (2005) Low LDL cholesterol in individuals of african descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet., 37, 161-165.
    • (2005) Nat. Genet. , vol.37 , pp. 161-165
    • Cohen, J.1
  • 7
    • 79955483667 scopus 로고    scopus 로고
    • A framework for variation discovery and genotyping using next-generation DNA sequencing data
    • DePristo,M.A. et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet., 43, 491-498.
    • (2011) Nat. Genet. , vol.43 , pp. 491-498
    • Depristo, M.A.1
  • 8
    • 77955868835 scopus 로고    scopus 로고
    • Using sift and polyphen to predict loss-of-function and gain-of-function mutations
    • Flanagan,S.E. et al. (2010) Using sift and polyphen to predict loss-of-function and gain-of-function mutations. Genet. Test Mol. Biomarkers, 14, 533-537.
    • (2010) Genet. Test Mol. Biomarkers , vol.14 , pp. 533-537
    • Flanagan, S.E.1
  • 9
    • 1542515338 scopus 로고    scopus 로고
    • A census of human cancer genes
    • Futreal,P.A. et al. (2004) A census of human cancer genes. Nat. Rev. Cancer, 4, 177-183.
    • (2004) Nat. Rev. Cancer , vol.4 , pp. 177-183
    • Futreal, P.A.1
  • 10
    • 84865760395 scopus 로고    scopus 로고
    • Gencode: The reference human genome annotation for the encode project
    • Harrow,J. et al. (2012) Gencode: the reference human genome annotation for the encode project. Genome Res., 22, 1760-1774.
    • (2012) Genome Res. , vol.22 , pp. 1760-1774
    • Harrow, J.1
  • 11
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • Herman,D.S. et al. (2012) Truncations of titin causing dilated cardiomyopathy. N. Engl. J.Med., 366, 619-628.
    • (2012) N. Engl. J.Med. , vol.366 , pp. 619-628
    • Herman, D.S.1
  • 12
    • 84860480571 scopus 로고    scopus 로고
    • APOC3 null mutation affects lipoprotein profile APOC3 deficiency: From mice to man
    • Hofker,M.H. (2010) APOC3 null mutation affects lipoprotein profile APOC3 deficiency: from mice to man. Eur. J. Hum. Genet., 18, 1-2.
    • (2010) Eur. J. Hum. Genet. , vol.18 , pp. 1-2
    • Hofker, M.H.1
  • 13
    • 79953168016 scopus 로고    scopus 로고
    • Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
    • Isidor,B. et al. (2011) Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat. Genet., 43, 306-308.
    • (2011) Nat. Genet. , vol.43 , pp. 306-308
    • Isidor, B.1
  • 14
    • 64849092309 scopus 로고    scopus 로고
    • Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    • Jones,S. et al. (2009) Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science, 324, 217-217.
    • (2009) Science , vol.324 , pp. 217-217
    • Jones, S.1
  • 15
    • 84864471159 scopus 로고    scopus 로고
    • A mutation in APP protects against alzheimer's disease and age-related cognitive decline
    • Jonsson,T. et al. (2012) A mutation in APP protects against alzheimer's disease and age-related cognitive decline. Nature, 488, 96-99.
    • (2012) Nature , vol.488 , pp. 96-99
    • Jonsson, T.1
  • 16
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar,P. et al. (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc., 4, 1073-1081.
    • (2009) Nat. Protoc. , vol.4 , pp. 1073-1081
    • Kumar, P.1
  • 17
    • 84864953892 scopus 로고    scopus 로고
    • Optimal tests for rare variant effects in sequencing association studies
    • Lee,S. et al. (2012) Optimal tests for rare variant effects in sequencing association studies. Biostatistics, 13, 762-775.
    • (2012) Biostatistics , vol.13 , pp. 762-775
    • Lee, S.1
  • 18
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li,B. and Leal,S.M. (2008)Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am. J. Hum. Genet., 83, 311-321.
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 19
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with burrowswheeler transform
    • Li,H. and Durbin,R. (2010) Fast and accurate long-read alignment with burrowswheeler transform. Bioinformatics, 26, 589-595.
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 20
    • 0000810338 scopus 로고
    • A statistical paradox
    • Lindley,D. (1957) A statistical paradox. Biometrika, 44, 187-192.
    • (1957) Biometrika , vol.44 , pp. 187-192
    • Lindley, D.1
  • 21
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur,D.G. et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science, 335, 823-828.
    • (2012) Science , vol.335 , pp. 823-828
    • Macarthur, D.G.1
  • 22
    • 78651225855 scopus 로고    scopus 로고
    • Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease
    • Momozawa,Y. et al. (2011) Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat. Genet., 43, 43-47.
    • (2011) Nat. Genet. , vol.43 , pp. 43-47
    • Momozawa, Y.1
  • 23
    • 78649755576 scopus 로고    scopus 로고
    • Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
    • Musunuru,K. et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N. Engl. J. Med., 363, 2220-2227.
    • (2010) N. Engl. J. Med. , vol.363 , pp. 2220-2227
    • Musunuru, K.1
  • 24
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • Nejentsev,S. et al. (2009) Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science, 324, 387-389.
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1
  • 25
    • 58149262866 scopus 로고    scopus 로고
    • A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
    • Pollin,T.I. et al. (2008) A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science, 322, 1702-1705.
    • (2008) Science , vol.322 , pp. 1702-1705
    • Pollin, T.I.1
  • 26
    • 80054975975 scopus 로고    scopus 로고
    • Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
    • Rivas,M.A. et al. (2011) Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat. Genet., 43, 1066-1073.
    • (2011) Nat. Genet. , vol.43 , pp. 1066-1073
    • Rivas, M.A.1
  • 27
    • 84872621246 scopus 로고    scopus 로고
    • Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
    • Ruark,E. et al. (2013) Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature, 493, 406-410.
    • (2013) Nature , vol.493 , pp. 406-410
    • Ruark, E.1
  • 28
    • 0142010537 scopus 로고    scopus 로고
    • Familial hypobetalipoproteinemia a review
    • Schonfeld,G. (2003) Familial hypobetalipoproteinemia a review. J. Lipid Res., 44, 878-883.
    • (2003) J. Lipid Res. , vol.44 , pp. 878-883
    • Schonfeld, G.1
  • 29
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu,M.C. et al. (2011) Rare-variant association testing for sequencing data with the sequence kernel association test. Am. J. Hum. Genet., 89, 82-93.
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 82-93
    • Wu, M.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.