DNA Sequencing and Sequence Variation
Human DNA Sequence
The HGP's continued emphasis is on obtaining a complete and highly accurate reference sequence (1 error in 10,000 bases) that is largely continuous across each human chromosome. Scientists believe that knowing this sequence is critically important for understanding human biology and for applications to other fields.
The working draft finished in June comprises shotgun sequence data from mapped clones, with gaps and ambiguities unresolved. If these data sets can be merged with those from the private sector, they may increase the depth of the mapped draft, which scientists expect will contain about half the genes. Draft sequence will provide a foundation for obtaining the high-quality finished sequence and also will be a valuable tool for researchers hunting disease genes.
Sequence Variation
A new goal focuses on identifying individual variations in the human genome.
Although more than 99% of human DNA sequences are the same across the
population, variations in DNA sequence can have a major impact on how humans
respond to disease; environmental insults such as bacteria, viruses, toxins, and
chemicals; and drugs and other therapies.
Methods are being developed to detect different types of variation, particularly the most common type called single-nucleotide polymorphisms (SNPs), which occur about once every 100 to 300 bases. Scientists believe SNP maps will help them identify the multiple genes associated with such complex diseases as cancer, diabetes, vascular disease, and some forms of mental illness. These associations are difficult to establish with conventional gene-hunting methods because a single altered gene may make only a small contribution to disease risk.
| Sequencing
and Sequencing
Technologies abstracts from 2000 U.S. DOE Human Genome Program
Contractor-Grantee Workshop VIII
| Sequencing
and Sequencing
Technologies abstracts from 1999 U.S. DOE Human Genome Program
Contractor-Grantee Workshop VII
| Sequencing
and Sequencing
Technologies abstracts from 1997 U.S. DOE Human Genome Program
Contractor-Grantee Workshop VI
| Sequencing
abstracts from U.S. DOE Human Genome 1997 Program Report
| Sequencing
abstracts from 1996 U.S. DOE Human Genome Program Contractor-Grantee
Workshop V
| Sequencing
abstracts from 1994 U.S. DOE Human Genome Program Contractor-Grantee
Workshop IV
| Sequencing
Technology abstracts from U.S. DOE Human Genome 1993 Program Report
| Resource
Development abstracts from U.S. DOE Human Genome 1993 Program Report
| Five Years of Progress in the U.S. Human Genome
Project: Sequencing
(December 1995)
| U.S. NIH NHGRI
Database of research projects | |
| Sequencing
| Resource
Announcements | |