Please use this identifier to cite or link to this item: https://doi.org/10.1186/1479-7364-5-6-577
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dc.titleHuman genetics and genomics a decade after the release of the draft sequence of the human genome
dc.contributor.authorNaidoo, N.
dc.contributor.authorPawitan, Y.
dc.contributor.authorSoong, R.
dc.contributor.authorCooper, D.N.
dc.contributor.authorKu, C.-S.
dc.date.accessioned2014-11-26T07:50:34Z
dc.date.available2014-11-26T07:50:34Z
dc.date.issued2011
dc.identifier.citationNaidoo, N., Pawitan, Y., Soong, R., Cooper, D.N., Ku, C.-S. (2011). Human genetics and genomics a decade after the release of the draft sequence of the human genome. Human Genomics 5 (6) : 577-622. ScholarBank@NUS Repository. https://doi.org/10.1186/1479-7364-5-6-577
dc.identifier.issn14797364
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109843
dc.description.abstractSubstantial progress has been made in human genetics and genomics research over the past ten years since the publication of the draft sequence of the human genome in 2001. Findings emanating directly from the Human Genome Project, together with those from follow-on studies, have had an enormous impact on our understanding of the architecture and function of the human genome. Major developments have been made in cataloguing genetic variation, the International HapMap Project, and with respect to advances in genotyping technologies. These developments are vital for the emergence of genome-wide association studies in the investigation of complex diseases and traits. In parallel, the advent of high-throughput sequencing technologies has ushered in the 'personal genome sequencing' era for both normal and cancer genomes, and made possible large-scale genome sequencing studies such as the 1000 Genomes Project and the International Cancer Genome Consortium. The high-throughput sequencing and sequence-capture technologies are also providing new opportunities to study Mendelian disorders through exome sequencing and whole-genome sequencing. This paper reviews these major developments in human genetics and genomics over the past decade. © HENRY STEWART PUBLICATIONS.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1186/1479-7364-5-6-577
dc.sourceScopus
dc.subject1000 Genomes Project
dc.subjectCancer genome sequencing
dc.subjectComplex disease
dc.subjectCopy number variations
dc.subjectExome sequencing
dc.subjectGenome-wide association studies
dc.subjectHuman Genome Project
dc.subjectInternational HapMap Project
dc.subjectMendelian disorders
dc.subjectNext-generation sequencing technologies
dc.subjectPersonalised genomic medicine
dc.subjectSingle nucleotide polymorphisms
dc.typeReview
dc.contributor.departmentCENTRE FOR MOLECULAR EPIDEMIOLOGY
dc.contributor.departmentCANCER SCIENCE INSTITUTE OF SINGAPORE
dc.description.doi10.1186/1479-7364-5-6-577
dc.description.sourcetitleHuman Genomics
dc.description.volume5
dc.description.issue6
dc.description.page577-622
dc.identifier.isiutNOT_IN_WOS
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