Abstract
A software system for transforming fragments from four-color fluorescence-based gel electrophoresis experiments into assembled sequence is described. It has been developed for large-scale processing of all trace data, including shotgun and finishing reads, regardless of clone origin. Design considerations are discussed in detail, as are programming implementation and graphic tools. The importance of input validation, record tracking, and use of base quality values is emphasized. Several quality analysis metrics are proposed and applied to sample results from recently sequenced clones. Such quantities prove to be a valuable aid in evaluating modifications of sequencing protocol. The system is in full production use at both the Genome Sequencing Center and the Sanger Centre, for which combined weekly production is approximately 100, 000 sequencing reads per week.
MeSH Terms
Automation
Base Sequence
Computational Biology
Computer Graphics
Human Genome Project
Humans
Sequence Analysis, DNA/instrumentation,methods,statistics & numerical data
Software
User-Computer Interface
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Wendl M C
Genome Sequencing Center, Washington University, St. Louis, Missouri 63108 USA. mwendl@watson.wustl.edu
Dear S
Hodgson D
Hillier L
References (14)
14 references, click to expand
-
The Staden sequence analysis package.
Mol Biotechnol. 1996 Jun;5(3):233-41
PMID: 8837029
-
Experiment files and their application during large-scale sequencing projects.
DNA Seq. 1996;6(2):109-17
PMID: 8907307
-
Lane tracking software for four-color fluorescence-based electrophoretic gel images.
Genome Res. 1996 Nov;6(11):1110-7
PMID: 8938435
-
Hopper: software for automating data tracking and flow in DNA sequencing.
Comput Appl Biosci. 1997 Apr;13(2):175-82
PMID: 9146965
-
Base-calling of automated sequencer traces using phred. I. Accuracy assessment.
Genome Res. 1998 Mar;8(3):175-85
PMID: 9521921
-
Base-calling of automated sequencer traces using phred. II. Error probabilities.
Genome Res. 1998 Mar;8(3):186-94
PMID: 9521922
-
NIH launches the final push to sequence the genome.
Science. 1996 Apr 12;272(5259):188-9
PMID: 8602498
-
The human genome project: past, present, and future.
Science. 1990 Apr 6;248(4951):44-9
PMID: 2181665
-
A trace display and editing program for data from fluorescence based sequencing machines.
Nucleic Acids Res. 1991 Dec 11;19(23):6481-3
PMID: 1754386
-
A standard file format for data from DNA sequencing instruments.
DNA Seq. 1992;3(2):107-10
PMID: 1457811
-
2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans.
Nature. 1994 Mar 3;368(6466):32-8
PMID: 7906398
-
The genome reconstruction manager: a software environment for supporting high-throughput DNA sequencing.
Genomics. 1994 Sep 1;23(1):192-201
PMID: 7829071
-
A new DNA sequence assembly program.
Nucleic Acids Res. 1995 Dec 25;23(24):4992-9
PMID: 8559656
-
Consed: a graphical tool for sequence finishing.
Genome Res. 1998 Mar;8(3):195-202
PMID: 9521923