10.1186/1479-7364-5-6-577Human Genomics56577-62

Cooper, D.N.

Ku, C.-S.

Naidoo, N.

Pawitan, Y.

Soong, R.

PubMed

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

Naidoo, Nasheen

Pawitan, Yudi

Soong, Richie

Cooper, David Neil

Ku, Chee-Seng

Online Research @ Cardiff

Human genetics and genomics a decade after the release of the draft sequence of the human genome

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.</p

Naidoo Nasheen

Pawitan Yudi

Soong Richie

Cooper David N

Ku Chee-Seng

Directory of Open Access Journals

Human Genomics

ScholarBank@NUS

Nasheen Naidoo

Yudi Pawitan

Richie Soong

David N Cooper

Chee-Seng Ku

Crossref

English

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The DNA sequence and comparative analysis of human chromosome 10’,

The DNA sequence and comparative analysis of human chromosome 20’,

The DNA sequence and comparative analysis of human chromosome 5’,

The DNA sequence of human chromosome 21’,

The DNA sequence of human chromosome 7’,

The DNA sequence, annotation and analysis of human chromosome 3’,

The ﬁnished DNA sequence of human chromosome 12’,

The male-speciﬁc region of the human Y chromosome is a mosaic of discrete sequence classes’,

The sequence and analysis of duplication-rich human chromosome 16’,

https://humgenomics.biomedcentral.com/track/pdf/10.1186/1479-7364-5-6-577?site=humgenomics.biomedcentral.com

Human genetics and genomics a decade after the release of the draft sequence of the human genome

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Online Research @ Cardiff

Directory of Open Access Journals

ScholarBank@NUS

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