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Book: Microarrays for personalized genomic medicine

TitleMicroarrays for personalized genomic medicine
Authors
Issue Date2010
PublisherAcademic Press.
Citation
Advances In Clinical Chemistry, 2010, v. 52 C, p. 1-18 How to Cite?
AbstractThe combination of single nucleotide polymorphisms (SNPs) database and high-density SNP array allows the use of SNPs as informative polymorphic markers for Mendelian diseases with complex traits efficiently. With the high-density and high-resolution SNP arrays, we can detect even the smallest structural changes that would have been missed with conventional low-density cytogenetic techniques for prognostic and diagnostic utilities. Accurate mapping may be useful for genotype-phenotype correlation in individual basis and for prenatal investigations. Here, we review some applications of genome-wide SNP genotyping on detecting homozygous candidate region in consanguineous family priors to mutation analysis. In addition to personalized genomic medicine, studying the genetic heterogeneity in diverse ancestral population helps to implementing effective clinical management. © 2010 Elsevier Inc.
Persistent Identifierhttp://hdl.handle.net/10722/139926
ISSN
2014 Impact Factor: 2.646
2014 SCImago Journal Rankings: 0.760
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_HK
dc.contributor.authorLau, KCen_HK
dc.contributor.authorTong, SFen_HK
dc.date.accessioned2011-09-23T06:01:33Z-
dc.date.available2011-09-23T06:01:33Z-
dc.date.issued2010en_HK
dc.identifier.citationAdvances In Clinical Chemistry, 2010, v. 52 C, p. 1-18en_HK
dc.identifier.issn0065-2423en_HK
dc.identifier.urihttp://hdl.handle.net/10722/139926-
dc.description.abstractThe combination of single nucleotide polymorphisms (SNPs) database and high-density SNP array allows the use of SNPs as informative polymorphic markers for Mendelian diseases with complex traits efficiently. With the high-density and high-resolution SNP arrays, we can detect even the smallest structural changes that would have been missed with conventional low-density cytogenetic techniques for prognostic and diagnostic utilities. Accurate mapping may be useful for genotype-phenotype correlation in individual basis and for prenatal investigations. Here, we review some applications of genome-wide SNP genotyping on detecting homozygous candidate region in consanguineous family priors to mutation analysis. In addition to personalized genomic medicine, studying the genetic heterogeneity in diverse ancestral population helps to implementing effective clinical management. © 2010 Elsevier Inc.en_HK
dc.languageengen_US
dc.publisherAcademic Press.-
dc.relation.ispartofAdvances in Clinical Chemistryen_HK
dc.subject.meshGenetic Testing - methods-
dc.subject.meshGenomics - methods-
dc.subject.meshGenotype-
dc.subject.meshMicroarray Analysis - methods-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.titleMicroarrays for personalized genomic medicineen_HK
dc.typeBooken_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/S0065-2423(10)52001-8en_HK
dc.identifier.pmid21275337en_HK
dc.identifier.scopuseid_2-s2.0-77956997886en_HK
dc.identifier.hkuros192460en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77956997886&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume52en_HK
dc.identifier.issueCen_HK
dc.identifier.spage1en_HK
dc.identifier.epage18en_HK
dc.identifier.isiWOS:000283462500001-
dc.publisher.placeUnited Statesen_HK

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