Naslov
Bioinformatics tools towards human genome analysis

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

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

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 (24-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
human genome sequencing; comparative genome annotation; haplotypes; QTLs; computer program package; ClustScan; TAGS

Sažetak
The rapid progress in DNA sequencing technology will soon make the sequencing of the genomes of individuals commonplace. This will create the problem of analysing the mass of data to extract the relevant information. An integrated set of computer programs, the ClustScan (Cluster Scanner) suite of programs, was developed. ClustScan is an easy to use, rapid annotation tool that takes a top-down approach based on HMM models to annotate genes encoding biosynthetic enzymes forming metabolic pathways. The versatility of this program package has been demonstrated by annotating biochemical pathways in microbial, invertebrate animal and metagenomic datasets. The novelty of ClustScan over existing computer programs is the knowledge-based automatic prediction of activities and specificities of proteins under investigation. The open architecture of ClustScan allows easy integration with other programs, facilitating further analyses of results. The program is easily updated to incorporate new knowledge as well as standard format annotation files for DNA sequences. The analysis of an individual human genome requires a number of different sorts of analyses. This includes detection of mutations (both known and novel) that inactivate 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. Work is underway to extend ClustScan for comparative genome annotation to generate a novel tool for automatic 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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