Roger Green

Coventry University, Coventry, ENG, United Kingdom

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Publications (3)11.2 Total impact

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    ABSTRACT: Hereditary non-polyposis colorectal cancer (HN-PCC) is one of the most common autosomal dominant diseases in developed countries. Here, we report on a system to identify the risk of a family having HNPCC based on its history. This is important since population-wide genetic screening for HNPCC is not currently considered feasible due to its complexity and expense. If the risk of a family having HNPCC can be identified/asessed, then only the high risk fraction of the population would undergo intensive screening. Here, we have developed a Multi-Layer Feed-Forward Neural Network to classify families into high-, intermediate- and low-risk categories and compared the result with the benchmark logistic regression model.
    Conference proceedings: ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference 02/2005; 3:2417-20.
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    ABSTRACT: Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated population living in Newfoundland and performed a 5-cM genome scan. Linkage analysis identified a locus mapping to 12p13.33 with a maximum LOD score of 8.4. Haplotype sharing defined a candidate interval of 1.06 Mb containing all or part of seven annotated genes, sequencing of which failed to detect causative mutations. Comparative genomics revealed a conserved ORF corresponding to a novel gene in which we found three different truncating mutations among five families including patients from rural Quebec and Nova Scotia. This gene, termed "HSN2," consists of a single exon located within intron 8 of the PRKWNK1 gene and is transcribed from the same strand. The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells.
    The American Journal of Human Genetics 06/2004; 74(5):1064-73. · 11.20 Impact Factor
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    ABSTRACT: Colorectal cancer (CRC) is one of the most common fatal cancers in developed countries and represents a significant public-health issue. About 3-5% of patients with CRC have hereditary non-polyposis colorectal cancer (HNPCC). Cancer morbidity and mortality can be reduced if early and intensive screening is pursued. But, despite advances in screening, population-wide genetic screening for HNPCC is not currently considered feasible due to its complexity and expense. If we can identify/assess the risk of a family having HNPCC, then only a fraction of the population will undergo intensive screening. This identification is currently performed by a genetic counsellor/physician who makes the decision based on some pre-defined criteria. The risk estimation by employing some mathematical methods, such as logistic regression, has also been reported. Our aim is to investigate the use of artificial intelligence techniques for genetic risk assessment. In this paper we summarize current knowledge on HNPCC and introduce the pedigree database used. Then we describe the system developed for HNPCC-risk assessment, which is based on analysing the pedigree data using self-organizing maps. The experimental evaluation shows good classification results.
    Conference proceedings: ... Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Conference 02/2004; 5:3229-32.

Publication Stats

52 Citations
14 Downloads
171 Views
11.20 Total Impact Points

Institutions

  • 2004–2005
    • Coventry University
      • Faculty of Engineering and Computing
      Coventry, ENG, United Kingdom
    • Memorial University of Newfoundland
      • Discipline of Genetics
      St. John's, Newfoundland and Labrador, Canada