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Last updated:

 February 16, 2006

 

African Society of Human Genetics


AfSHG 2006 Conference


Instructions for Authors

Before uploading your abstract, please review these instructions for authors.  When you are done, submit using the online abstract submission form.

1.    The abstract must be prepared as a Microsoft Word document and submitted electronically 

2.    Faxed abstracts will NOT be accepted.

3.    Please use Arial, font size 11 and full justification where possible. Type abstract single spaced. Standard abbreviations may be used.

4.    The entire abstract should not be more than 300 words. It must include the title, author(s), institution, and email address of the corresponding author.

5.    Type as follows: Title in CAPITAL LETTERS; Presenting author’s name (underlined), other authors' names,  followed by the name of the institution, city, country and email address of the corresponding author. 

6.    State the background to the study, the methods used, summarize the results obtained and state conclusions reached (see sample abstract below).

7.    If accepted the abstracts will be printed as received, editing is the responsibility of the author. You will be notified via email regarding abstract acceptance by May 01, 2006.

Note: Both poster and oral presentations will be accepted. Because of restricted program time, only a limited number of oral presentations will be possible.

8.    If you are satisfied that you have checked all the above points, then you should submit your abstract using the online submission page. If for any reason you cannot do this, please email either:

Dr. Melanie Newport:         m.j.newport@bsms.ac.uk , OR

Jayne Wellington:                j.wellington@bsms.ac.uk

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Sample abstract

ENHANCING THE UTILITY OF SINGLE NUCLEOTIDE POLYMORPHISM LOCATION TYPES IN THE HUMAN GENOME

 R.D. Isokpehi, D.F. Sarpong  and F.A. Okojie. Jackson State University, Jackson Mississippi 39217, USA. raphael.isokpehi@jsums.edu

 Background
Single Nucleotide Polymorphisms (SNPs) in the human genome can contribute to population level genetic variations that are linked to disease susceptibility. High-throughput SNP genotyping techniques are yielding high-density maps of SNPs that can be used to study complex genetic diseases.

 Objectives
The primary objective of this research is to classify and/or prioritize genes in the Human Genome for epidemiological and biological studies using binary integration techniques.

 Methods
EnsMart (http://www.ensembl.org/) was used to retrieve Ensembl Gene ID of human gene entries that have the following SNP attributes(entries): Coding (18,143), Intronic (18,423), 5’ UTR (6,813), 3’ UTR (13,340), 5’ Upstream (21,932), 3’ Downstream (21,964), Synonymous SNPs (13,842), Non-Synonymous SNPs (15,155), Stop SNPs (981), and SNPs with a ka_ks ratio >0.5 (1,828). A binary integration computational pipeline that encodes the evidence for an attribute as I (present) or 0 (absence) was then used to generate 10-digit binary profiles for each of the over 22,000 gene entries in the ENSEMBL Human database.

 Results
Of the possible 1024 gene clusters, 112 had at least one gene. The gene cluster abundant for all the samples attributes contained 66 genes including those not described in the On-line Mendelian Inheritance in Man (OMIM) database.

Conclusions
The binary integration of genomic data is one of the cost- and time-effective methods for reducing massive genomic data into gene clusters of biological or epidemiological relevance. These gene clusters could be useful in genome annotation, haplotype mapping and suggest future areas of genetic research.


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