The Human Genome Project: 10 years later

Lancet, The

doi:10.1016/s0140-6736(10)61012-4

Cited by 6 publications

(1 citation statement)

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“…Despite the passage of more than 10 years after the first annotation of the complete sequence of the human genome, and its undeniable impact in accelerating biomedical research, many believe that its promise is still to be fulfilled, and the clinical benefits are so far scarce [1,2]. While much has been made of the impact of genomics on individual health (e.g.…”

Section: Introductionmentioning

confidence: 99%

Genomics for Public Health Improvement: Relevant International Ethical and Policy Issues around Genome-Wide Association Studies and Biobanks

Pang¹

2013

Public Health Genomics

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Genome-wide association studies and biobanks are at the forefront of genomics research and possess unprecedented potential to improve public health. However, for public health genomics to ultimately fulfill its potential, technological and scientific advances alone are insufficient. Scientists, ethicists, policy makers, and regulators must work closely together with research participants and communities in order to craft an equitable and just ethical framework, and a sustainable environment for effective policies. Such a framework should be a ‘hybrid' form which balances equity and solidarity with entrepreneurship and scientific advances. A good balance between research and policy on one hand, and privacy, protection and trust on the other is the key for public health improvement based on advances in genomics science.

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Section: Introductionmentioning

confidence: 99%

Genomics for Public Health Improvement: Relevant International Ethical and Policy Issues around Genome-Wide Association Studies and Biobanks

Pang¹

2013

Public Health Genomics

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Commentary: Why we hate powerpoint

Parslow

2011

Biochem Molecular Bio Educ

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Hypothesis driven single nucleotide polymorphism search (HyDn-SNP-S)

et al. 2013

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The advent of complete-genome genotyping across phenotype cohorts has provided a rich source of information for bioinformaticians. However the search for SNPs from this data is generally performed on a study-by-study case without any specific hypothesis of the location for SNPs that are predictive for the phenotype. We have designed a method whereby very large SNP lists (several gigabytes in size), combining several genotyping studies at once, can be sorted and traced back to their ultimate consequence in protein structure. Given a working hypothesis, researchers are able to easily search whole genome genotyping data for SNPs that link genetic locations to phenotypes. This allows a targeted search for correlations between phenotypes and potentially relevant systems, rather than utilizing statistical methods only. HyDn-SNP-S returns results that are less data dense, allowing more thorough analysis, including haplotype analysis. We have applied our method to correlate DNA polymerases to cancer phenotypes using four of the available cancer databases in dbGaP. Logistic regression and derived haplotype analysis indicates that ~80 SNPs, previously overlooked, are statistically significant. Derived haplotypes from this work link POLL to breast cancer and POLG to prostate cancer with an increase in incidence of 3.01- and 9.6-fold, respectively. Molecular dynamics simulations on wild-type and one of the SNP mutants from the haplotype of POLL provide insights at the atomic level on the functional impact of this cancer related SNP. Furthermore, HyDn-SNP-S has been designed to allow application to any system. The program is available upon request from the authors.

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The Human Genome Project: 10 years later

Cited by 6 publications

References 0 publications

Genomics for Public Health Improvement: Relevant International Ethical and Policy Issues around Genome-Wide Association Studies and Biobanks

Genomics for Public Health Improvement: Relevant International Ethical and Policy Issues around Genome-Wide Association Studies and Biobanks

Commentary: Why we hate powerpoint

Hypothesis driven single nucleotide polymorphism search (HyDn-SNP-S)

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