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Single nucleotide polymorphism hunting in cyberspace
Author(s) -
Gu Zhijie,
Hillier LaDeana,
Kwok PuiYan
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)12:4<221::aid-humu1>3.0.co;2-i
Subject(s) - genbank , biology , genetics , expressed sequence tag , dna sequencing , sequence (biology) , human genome , computational biology , genomic dna , genomic library , single nucleotide polymorphism , nucleic acid sequence , sequence database , complementary dna , gene , genome , base sequence , genotype
Abstract 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.