메뉴 건너뛰기




Volumn 40, Issue W1, 2012, Pages

HomozygosityMapper2012-bridging the gap between homozygosity mapping and deep sequencing

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPUTER PROGRAM; EXPERIMENTAL ANIMAL; FAMILY STUDY; FARM ANIMAL; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HOMOZYGOSITY MAPPING; INTERNET; LINKAGE ANALYSIS; NONHUMAN; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RODENT; WEB SERVER;

EID: 84864421963     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gks487     Document Type: Article
Times cited : (59)

References (20)
  • 2
    • 16544370230 scopus 로고    scopus 로고
    • A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR
    • Woods, C.G., Valente, E.M., Bond, J. and Roberts, E. (2004) A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J. Med. Genet., 41, e101.
    • (2004) J. Med. Genet. , vol.41
    • Woods, C.G.1    Valente, E.M.2    Bond, J.3    Roberts, E.4
  • 3
    • 33749016803 scopus 로고    scopus 로고
    • Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families
    • Carr, I.M., Flintoff, K.J., Taylor, G.R., Markham, A.F. and Bonthron, D.T. (2006) Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum. Mutat., 27, 1041-1046.
    • (2006) Hum. Mutat. , vol.27 , pp. 1041-1046
    • Carr, I.M.1    Flintoff, K.J.2    Taylor, G.R.3    Markham, A.F.4    Bonthron, D.T.5
  • 4
    • 71749104302 scopus 로고    scopus 로고
    • Shadow autozygosity mapping by linkage exclusion (SAMPLE): A simple strategy to identify the genetic basis of lethal autosomal recessive disorders
    • Carr, I.M., Szymanska, K., Sheridan, E., Markham, A.F., Bonthron, D.T. and Johnson, C.A. (2009) Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders. Hum. Mutat., 30, 1642-1649.
    • (2009) Hum. Mutat. , vol.30 , pp. 1642-1649
    • Carr, I.M.1    Szymanska, K.2    Sheridan, E.3    Markham, A.F.4    Bonthron, D.T.5    Johnson, C.A.6
  • 5
    • 66349109623 scopus 로고    scopus 로고
    • IBDfinder and SNPsetter: Tools for pedigreeindependent identification of autozygous regions in individuals with recessive inherited disease
    • Carr, I.M., Sheridan, E., Hayward, B.E., Markham, A.F. and Bonthron, D.T. (2009) IBDfinder and SNPsetter: tools for pedigreeindependent identification of autozygous regions in individuals with recessive inherited disease. Hum. Mutat., 30, 960-967.
    • (2009) Hum. Mutat. , vol.30 , pp. 960-967
    • Carr, I.M.1    Sheridan, E.2    Hayward, B.E.3    Markham, A.F.4    Bonthron, D.T.5
  • 7
    • 57549100209 scopus 로고    scopus 로고
    • Genedistiller-Distilling candidate genes from linkage intervals
    • Seelow, D., Schwarz, J.M. and Schuelke, M. (2008) GeneDistiller- distilling candidate genes from linkage intervals. PLoS One, 3, e3874.
    • (2008) PLoS One , vol.3
    • Seelow, D.1    Schwarz, J.M.2    Schuelke, M.3
  • 10
    • 73349138875 scopus 로고    scopus 로고
    • Exome sequencing makes medical genomics a reality
    • Biesecker, L.G. (2010) Exome sequencing makes medical genomics a reality. Nat. Genet., 42, 13-14.
    • (2010) Nat. Genet. , vol.42 , pp. 13-14
    • Biesecker, L.G.1
  • 12
    • 78149275446 scopus 로고    scopus 로고
    • Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan
    • Rafiq, M.A., Ansar, M., Marshall, C.R., Noor, A., Shaheen, N., Mowjoodi, A., Khan, M.A., Ali, G., Amin-uD-Din, M., Feuk, L. et al. (2010) Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. Clin. Genet., 78, 478-483.
    • (2010) Clin. Genet. , vol.78 , pp. 478-483
    • Rafiq, M.A.1    Ansar, M.2    Marshall, C.R.3    Noor, A.4    Shaheen, N.5    Mowjoodi, A.6    Khan, M.A.7    Ali, G.8    Amin-Ud-Din, M.9    Feuk, L.10
  • 13
    • 77950431859 scopus 로고    scopus 로고
    • Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
    • Rajab, A., Straub, V., McCann, L.J., Seelow, D., Varon, R., Barresi, R., Schulze, A., Lucke, B., Lützkendorf, S., Karbasiyan, M. et al. (2010) Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet., 6, e1000874.
    • (2010) PLoS Genet. , vol.6
    • Rajab, A.1    Straub, V.2    McCann, L.J.3    Seelow, D.4    Varon, R.5    Barresi, R.6    Schulze, A.7    Lucke, B.8    Lützkendorf, S.9    Karbasiyan, M.10
  • 19
    • 17444373392 scopus 로고    scopus 로고
    • ALOHOMORA: A tool for linkage analysis using 10K SNP array data
    • Rüschendorf, F. and Nürnberg, P. (2005) ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics, 21, 2123-2125.
    • (2005) Bioinformatics , vol.21 , pp. 2123-2125
    • Rüschendorf, F.1    Nürnberg, P.2
  • 20
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz, J.M., Rödelsperger, C., Schuelke, M. and Seelow, D. (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods, 7, 575-576.
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.