메뉴 건너뛰기




Volumn 138, Issue 9, 2018, Pages 1893-1900

Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; AUTOZYGOSITY; BIOCHEMICAL ANALYSIS; BIOINFORMATICS; EPIDERMOLYSIS BULLOSA; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC SERVICE; GENODERMATOSIS; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOSITY; HUMAN; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SHORT SURVEY; TURNAROUND TIME; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; ZYGOSITY; CHROMOSOMAL MAPPING; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MEDICAL RESEARCH; PEDIGREE; PROCEDURES; SKIN DISEASE;

EID: 85051532701     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2018.06.170     Document Type: Short Survey
Times cited : (36)

References (22)
  • 1
    • 77951435275 scopus 로고    scopus 로고
    • Homozygosity mapping: one more tool in the clinical geneticist's toolbox
    • Alkuraya, F.S., Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med 12 (2010), 236–239.
    • (2010) Genet Med , vol.12 , pp. 236-239
    • Alkuraya, F.S.1
  • 2
    • 84874981980 scopus 로고    scopus 로고
    • Discovery of rare homozygous mutations from studies of consanguineous pedigrees
    • 6.12.1–13
    • Alkuraya, F.S., Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet, 75, 2012 6.12.1–13.
    • (2012) Curr Protoc Hum Genet , vol.75
    • Alkuraya, F.S.1
  • 3
    • 84893210677 scopus 로고    scopus 로고
    • HomSI: a homozygous stretch identifier from next-generation sequencing data
    • Gormez, Z., Bakir-Gungor, B., Sagiroglu, M.S., HomSI: a homozygous stretch identifier from next-generation sequencing data. Bioinformatics 30 (2014), 445–447.
    • (2014) Bioinformatics , vol.30 , pp. 445-447
    • Gormez, Z.1    Bakir-Gungor, B.2    Sagiroglu, M.S.3
  • 5
    • 85045724614 scopus 로고    scopus 로고
    • Epidermolysis bullosa: molecular pathology of connective tissue components in the cutaneous basement membrane zone
    • [e-pub ahead of print] (accessed 25 July 2018)
    • Has, C., Nystrom, A., Saeidian, A.H., Bruckner-Tuderman, L., Uitto, J., Epidermolysis bullosa: molecular pathology of connective tissue components in the cutaneous basement membrane zone. [e-pub ahead of print] Matrix Biol, 2018 https://doi.org/10.1016/j.matbio.2018.04.001 (accessed 25 July 2018).
    • (2018) Matrix Biol
    • Has, C.1    Nystrom, A.2    Saeidian, A.H.3    Bruckner-Tuderman, L.4    Uitto, J.5
  • 6
    • 67949091187 scopus 로고    scopus 로고
    • Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances
    • LaFramboise, T., Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances. Nucleic Acids Res 37 (2009), 4181–4193.
    • (2009) Nucleic Acids Res , vol.37 , pp. 4181-4193
    • LaFramboise, T.1
  • 7
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li, H., Durbin, R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 (2009), 1754–1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 8
    • 77949587649 scopus 로고    scopus 로고
    • Fast and accurate long-read alignment with Burrows-Wheeler transform
    • Li, H., Durbin, R., Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26 (2010), 589–595.
    • (2010) Bioinformatics , vol.26 , pp. 589-595
    • Li, H.1    Durbin, R.2
  • 10
    • 77956295988 scopus 로고    scopus 로고
    • The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
    • McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20 (2010), 1297–1303.
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3    Sivachenko, A.4    Cibulskis, K.5    Kernytsky, A.6
  • 11
    • 33747036712 scopus 로고    scopus 로고
    • Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations
    • Mizrachi-Koren, M., Shemer, S., Morgan, M., Indelman, M., Khamaysi, Z., Petronius, D., et al. Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad Dermatol 55 (2006), 393–401.
    • (2006) J Am Acad Dermatol , vol.55 , pp. 393-401
    • Mizrachi-Koren, M.1    Shemer, S.2    Morgan, M.3    Indelman, M.4    Khamaysi, Z.5    Petronius, D.6
  • 12
    • 84928215290 scopus 로고    scopus 로고
    • Genetic linkage analysis in the age of whole-genome sequencing
    • Ott, J., Wang, J., Leal, S.M., Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet 16 (2015), 275–284.
    • (2015) Nat Rev Genet , vol.16 , pp. 275-284
    • Ott, J.1    Wang, J.2    Leal, S.M.3
  • 13
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 (2007), 559–575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5    Bender, D.6
  • 16
    • 84969194609 scopus 로고    scopus 로고
    • Genotypic heterogeneity and the mode of inheritance in epidermolysis bullosa
    • Uitto, J., Vahidnezhad, H., Youssefian, L., Genotypic heterogeneity and the mode of inheritance in epidermolysis bullosa. JAMA Dermatol 152 (2016), 517–520.
    • (2016) JAMA Dermatol , vol.152 , pp. 517-520
    • Uitto, J.1    Vahidnezhad, H.2    Youssefian, L.3
  • 17
    • 84992505021 scopus 로고    scopus 로고
    • KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family
    • Vahidnezhad, H., Youssefian, L., Saeidian, A.H., Mozafari, N., Barzegar, M., Sotoudeh, S., et al. KRT5 and KRT14 mutations in epidermolysis bullosa simplex with phenotypic heterogeneity, and evidence of semidominant inheritance in a multiplex family. J Invest Dermatol 136 (2016), 1897–1901.
    • (2016) J Invest Dermatol , vol.136 , pp. 1897-1901
    • Vahidnezhad, H.1    Youssefian, L.2    Saeidian, A.H.3    Mozafari, N.4    Barzegar, M.5    Sotoudeh, S.6
  • 18
    • 85035000713 scopus 로고    scopus 로고
    • Multigene next generation sequencing panel identifies pathogenic variants in patients with unknown subtype of epidermolysis bullosa: subclassification with prognostic implications
    • Vahidnezhad, H., Youssefian, L., Saeidian, A.H., Touati, A., Sotoudeh, S., Abiri, M., et al. Multigene next generation sequencing panel identifies pathogenic variants in patients with unknown subtype of epidermolysis bullosa: subclassification with prognostic implications. J Invest Dermatol 137 (2017), 2649–2652.
    • (2017) J Invest Dermatol , vol.137 , pp. 2649-2652
    • Vahidnezhad, H.1    Youssefian, L.2    Saeidian, A.H.3    Touati, A.4    Sotoudeh, S.5    Abiri, M.6
  • 19
    • 85013978261 scopus 로고    scopus 로고
    • Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages
    • Vahidnezhad, H., Youssefian, L., Zeinali, S., Saeidian, A.H., Sotoudeh, S., Mozafari, N., et al. Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages. J Invest Dermatol 137 (2017), 660–669.
    • (2017) J Invest Dermatol , vol.137 , pp. 660-669
    • Vahidnezhad, H.1    Youssefian, L.2    Zeinali, S.3    Saeidian, A.H.4    Sotoudeh, S.5    Mozafari, N.6
  • 20
    • 85035090558 scopus 로고    scopus 로고
    • Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy
    • Vahidnezhad, H., Youssefian, L., Saeidian, A.H., Mahmoudi, H.R., Touati, A., Abiri, M., et al. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol 66 (2018), 22–33.
    • (2018) Matrix Biol , vol.66 , pp. 22-33
    • Vahidnezhad, H.1    Youssefian, L.2    Saeidian, A.H.3    Mahmoudi, H.R.4    Touati, A.5    Abiri, M.6
  • 21
    • 85042154294 scopus 로고    scopus 로고
    • Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa
    • Vahidnezhad, H., Youssefian, L., Saeidian, A.H., Zeinali, S., Abiri, M., Sotoudeh, S., et al. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Derm 138 (2018), 121–131.
    • (2018) Exp Derm , vol.138 , pp. 121-131
    • Vahidnezhad, H.1    Youssefian, L.2    Saeidian, A.H.3    Zeinali, S.4    Abiri, M.5    Sotoudeh, S.6
  • 22
    • 84877304864 scopus 로고    scopus 로고
    • A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents
    • Wierenga, K.J., Jiang, Z., Yang, A.C., Mulvihill, J.J., Tsinoremas, N.F., A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genet Med 15 (2013), 354–360.
    • (2013) Genet Med , vol.15 , pp. 354-360
    • Wierenga, K.J.1    Jiang, Z.2    Yang, A.C.3    Mulvihill, J.J.4    Tsinoremas, N.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.