Naslov
Towards providing analyses of individual human genomes

Autori
Cullum, John ; Sonicki, Zdenko ; Starčević, Antonio ; Žučko, Jurica ; Diminić, Janko ; Long, F. Paul ; Hranueli, Daslav

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Abstracts of the 8th Balkan Meeting on Human Genetics ; u: Pediatria Croatica (2009) S / Barišić, Ingeborg - Zagreb : Croatian Society of Human Genetics, Croatian Society for Rare Diseases, Croatian Medical Association, 2009, 82 (25-GP)

Skup
Balkan Meeting on Human Genetics (8 ; 2009)

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
DNA sequencing technology; human genome sequencing; comparative genome annotation; haplotypes; QTLs; computer program package; XML; ClustScan; TAGS

Sažetak
The genome sequences of a small number of individuals have already been determined. “ New generation” DNA sequencing technology should lead to rapidly falling prices and the widespread determination of individual genome sequences. A major problem will be the provision of expert advice to interpret the results, both for the individual and their physician. An integrated set of computer programs (ClustScan) was developed initially to annotate modular biosynthetic clusters in bacteria that are important for the production of antibiotics and other pharmaceutically important products. The concept of ClustScan is to use a top-down approach incorporating knowledge in an ordered way (using XML) to produce results in a form useful for Biologists including a special graphical user interface. The versatility of this program package has been demonstrated by annotating biochemical pathways in microbial, invertebrate animal and metagenomic datasets. The open architecture of ClustScan allows easy integration with other programs and updating to incorporate new knowledge. The analysis of an individual human genome requires a number of different sorts of analyses. This includes detection of alleles (both known and novel) of genes as well as determination of haplotypes that are linked to QTLs of medical and pharmacogenomic significance. The results of the analyses must be integrated with existing knowledge to produce a medically useful tool. The concepts used in ClustScan seem ideally suited to generate a novel tool for automatic individual genome annotation, TAGS (Tool for Analysis of Genome Sequences). We would welcome collaboration with clinicians in the development of TAGS.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita, Biotehnologija

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