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Title: Human genetics and genomics a decade after the release of the draft sequence of the human genome
Authors: Naidoo, N. 
Pawitan, Y.
Soong, R. 
Cooper, D.N.
Ku, C.-S. 
Keywords: 1000 Genomes Project
Cancer genome sequencing
Complex disease
Copy number variations
Exome sequencing
Genome-wide association studies
Human Genome Project
International HapMap Project
Mendelian disorders
Next-generation sequencing technologies
Personalised genomic medicine
Single nucleotide polymorphisms
Issue Date: 2011
Citation: Naidoo, 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.
Abstract: Substantial 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.
Source Title: Human Genomics
ISSN: 14797364
DOI: 10.1186/1479-7364-5-6-577
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