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Literature DB >> 10568748

Identification of candidate coding region single nucleotide polymorphisms in 165 human genes using assembled expressed sequence tags.

Abstract

Using assembled expressed sequence tags (ESTs) from 50 different cDNA libraries, we have identified contigs that represent the complete coding sequences of 850 known human genes, and have scanned these for high quality sequence substitutions. We report the identification and characteristics of 201 candidate single nucleotide polymorphisms found in the coding sequences (cSNPs) of 165 of these genes. Using a conservative calculation, coding region nucleotide diversity (the average number of differences between any pair of chromosomes) was found to be 3 per 10,000 bp based on this data. This analysis reveals that assembled ESTs from multiple libraries may provide a rich source of comparative sequences to search for cSNPs in the human genome.

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Year: 1999 PMID： 10568748 PMCID： PMC310835 DOI： 10.1101/gr.9.11.1087

Source DB: PubMed Journal: Genome Res ISSN： 1088-9051 Impact factor: 9.043

34 in total

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Authors: M D Adams; J M Kelley; J D Gocayne; M Dubnick; M H Polymeropoulos; H Xiao; C R Merril; A Wu; B Olde; R F Moreno
Journal: Science Date: 1991-06-21 Impact factor: 47.728

Review 2. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.

Authors: D N Cooper; M Krawczak
Journal: Hum Genet Date: 1990-06 Impact factor: 4.132

3. The CpG dinucleotide and human genetic disease.

Authors: D N Cooper; H Youssoufian
Journal: Hum Genet Date: 1988-02 Impact factor: 4.132

4. Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure.

Authors: A von Eckardstein; H Funke; M Walter; K Altland; A Benninghoven; G Assmann
Journal: J Biol Chem Date: 1990-05-25 Impact factor: 5.157

5. Angiotensinogen: a candidate gene involved in preeclampsia?

Authors: R Arngrímsson; S Purandare; M Connor; J J Walker; S Björnsson; F Soubrier; Y V Kotelevtsev; R T Geirsson; H Björnsson
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Authors: A Braun; R Bichlmaier; H Cleve
Journal: Hum Genet Date: 1992-06 Impact factor: 4.132

7. Human beta 2-glycoprotein I: molecular analysis of DNA and amino acid polymorphism.

Authors: A Steinkasserer; C Dörner; R Würzner; R B Sim
Journal: Hum Genet Date: 1993-05 Impact factor: 4.132

8. Molecular basis of human hypertension: role of angiotensinogen.

Authors: X Jeunemaitre; F Soubrier; Y V Kotelevtsev; R P Lifton; C S Williams; A Charru; S C Hunt; P N Hopkins; R R Williams; J M Lalouel
Journal: Cell Date: 1992-10-02 Impact factor: 41.582

Review 9. Current methods of mutation detection.

Authors: R G Cotton
Journal: Mutat Res Date: 1993-01 Impact factor: 2.433

10. Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.

Authors: S C Bock; K Skriver; E Nielsen; H C Thøgersen; B Wiman; V H Donaldson; R L Eddy; J Marrinan; E Radziejewska; R Huber
Journal: Biochemistry Date: 1986-07-29 Impact factor: 3.162

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Authors: E Dawson; Y Chen; S Hunt; L J Smink; A Hunt; K Rice; S Livingston; S Bumpstead; R Bruskiewich; P Sham; R Ganske; M Adams; K Kawasaki; N Shimizu; S Minoshima; B Roe; D Bentley; I Dunham
Journal: Genome Res Date: 2001-01 Impact factor: 9.043

2. A cSNP map and database for human chromosome 21.

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Authors: Mari Cleide Sogayar; Anamaria A Camargo; Fabiana Bettoni; Dirce Maria Carraro; Lilian C Pires; Raphael B Parmigiani; Elisa N Ferreira; Eloísa de Sá Moreira; Maria do Rosário D de O Latorre; Andrew J G Simpson; Luciana Oliveira Cruz; Theri Leica Degaki; Fernanda Festa; Katlin B Massirer; Mari C Sogayar; Fernando Camargo Filho; Luiz Paulo Camargo; Marco A V Cunha; Sandro J De Souza; Milton Faria; Silvana Giuliatti; Leonardo Kopp; Paulo S L de Oliveira; Paulo B Paiva; Anderson A Pereira; Daniel G Pinheiro; Renato D Puga; Jorge Estefano S de Souza; Dulcineia M Albuquerque; Luís E C Andrade; Gilson S Baia; Marcelo R S Briones; Ana M S Cavaleiro-Luna; Janete M Cerutti; Fernando F Costa; Eugenia Costanzi-Strauss; Enilza M Espreafico; Adriana C Ferrasi; Emer S Ferro; Maria A H Z Fortes; Joelma R F Furchi; Daniel Giannella-Neto; Gustavo H Goldman; Maria H S Goldman; Arthur Gruber; Gustavo S Guimarães; Christine Hackel; Flavio Henrique-Silva; Edna T Kimura; Suzana G Leoni; Cláudia Macedo; Bettina Malnic; Carina V Manzini B; Suely K N Marie; Nilce M Martinez-Rossi; Marcelo Menossi; Elisabete C Miracca; Maria A Nagai; Francisco G Nobrega; Marina P Nobrega; Sueli M Oba-Shinjo; Márika K Oliveira; Guilherme M Orabona; Audrey Y Otsuka; Maria L Paço-Larson; Beatriz M C Paixão; Jose R C Pandolfi; Maria I M C Pardini; Maria R Passos Bueno; Geraldo A S Passos; Joao B Pesquero; Juliana G Pessoa; Paula Rahal; Cláudia A Rainho; Caroline P Reis; Tatiana I Ricca; Vanderlei Rodrigues; Silvia R Rogatto; Camila M Romano; Janaína G Romeiro; Antonio Rossi; Renata G Sá; Magaly M Sales; Simone C Sant'Anna; Patrícia L Santarosa; Fernando Segato; Wilson A Silva; Ismael D C G Silva; Neusa P Silva; Andrea Soares-Costa; Maria F Sonati; Bryan E Strauss; Eloiza H Tajara; Sandro R Valentini; Fabiola E Villanova; Laura S Ward; Dalila L Zanette
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