Single nucleotide polymorphism hunting in cyberspace

Large‐scale sequencing of human cDNA and genomic DNA libraries has produced a large collection of sequence data in public databases. To date, >900,000 human expressed sequence tag (EST) sequences and >80,000,000 bases of genomic DNA sequence have been deposited in Genbank. This ever‐expanding data set is a rich source of gene‐associated and anonymous single nucleotide polymorphisms (SNPs). DNA sequence variations can be found by comparing the sequences of redundant ESTs and by comparing sequences from overlapping genomic clones. Initial studies have shown that, with proper computer screening, informative SNP markers can be developed from these DNA databases in an efficient and cost‐effective manner. Complete public access to these databases will allow individual investigators to add biological value to the human sequence data generated by large‐scale sequencing centers. Hum Mutat 12:221–225, 1998. © 1998 Wiley‐Liss, Inc.

[1]  P. Kwok,et al.  Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms. , 1998, Genome research.

[2]  L. Hillier,et al.  Expressed sequence tags--ESTablishing bridges between genomes. , 1998, Trends in genetics : TIG.

[3]  E. Marshall.  'Playing Chicken' Over Gene Markers , 1997, Science.

[4]  Francis S. Collins,et al.  Variations on a Theme: Cataloging Human DNA Sequence Variation , 1997, Science.

[5]  Leonid Kruglyak,et al.  The use of a genetic map of biallelic markers in linkage studies , 1997, Nature Genetics.

[6]  P. Deloukas,et al.  A Gene Map of the Human Genome , 1996, Science.

[7]  N Risch,et al.  The Future of Genetic Studies of Complex Human Diseases , 1996, Science.

[8]  E. Mardis,et al.  Generation and analysis of 280,000 human expressed sequence tags. , 1996, Genome research.

[9]  M. Soares,et al.  Normalization and subtraction: two approaches to facilitate gene discovery. , 1996, Genome research.

[10]  A Chakravarti,et al.  The end of the beginning: the race to begin human genome sequencing. , 1996, Genome research.

[11]  B. Birren,et al.  Construction and characterization of a human bacterial artificial chromosome library. , 1996, Genomics.

[12]  E Marshall,et al.  NIH Launches the Final Push to Sequence the Genome , 1996, Science.

[13]  D. Nickerson,et al.  Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. , 1996, Genomics.

[14]  R. Fleischmann,et al.  Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. , 1995, Nature.

[15]  Gregory D. Schuler,et al.  ESTablishing a human transcript map , 1995, Nature Genetics.

[16]  E Marshall,et al.  Human genome project. Emphasis turns from mapping to large-scale sequencing. , 1995, Science.

[17]  C. Amemiya,et al.  A new bacteriophage P1–derived vector for the propagation of large human DNA fragments , 1994, Nature Genetics.

[18]  B. Birren,et al.  Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[19]  A. Kerlavage,et al.  Complementary DNA sequencing: expressed sequence tags and human genome project , 1991, Science.