NEW YORK, April 10 - An international team of scientists has compiled the complete DNA sequence of human chromosome 7, and has decoded nearly all of its genes.
The research, published in the April 10 issue of Science, also included "significant" steps designed to link the genomic data with existing disease states.
"We combined all information in public and private databases, including data generated by Celera Genomics, as well 15 years of our data and analyses to generate what we believe is the most comprehensive description of any human chromosome," said Stephen Scherer, a senior scientist at The Hospital for Sick Children in Toronto.
Some 90 scientists from 10 countries have shown that chromosome 7 contains 158 million nucleotides--or 5 per cent of the genome--and 1,455 protein-coding genes. They also said that some of these genes are implicated in diseases like cystic fibrosis, leukemia, and autism.
In fact, the study identified "all medically relevant landmarks" along the chromosome, which included several hundred chromosome breakpoints in which disease-related mutations occur. The breakpoints found in autism patients, for example, were used to pinpoint specific genes associated with the disorder, the researchers write.
Data from the chromosome 7 project have been deposited into a publicly accessible database that can be used to facilitate disease-gene research. According to the study, known phenotypes can be identified when physicians enter a patient's genetic deletions.