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1. Deciphering cellular states of innate tumor drug responses

Author

Graudens, Esther, Boulanger, Virginie, Mollard, Cindy, Mariage-Samson, Régine, Barlet, Xavier, Grémy, Guilaine, Couillault, Christine, Lajémi, Malika, Piatier-Tonneau, Dominique, Zaborski, Patrick, Eveno, Eric, Auffray, Charles, Imbeaud, Sandrine, Genexpress, Centre National de la Recherche Scientifique (CNRS), Genexpress, Génomique Fonctionnelle et Biologie Systémique pour la Santé, and Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience; The molecular mechanisms underlying innate tumor drug resistance, a major obstacle to successful cancer therapy, remain poorly understood. In colorectal cancer (CRC), molecular studies have focused on drug-selected tumor cell lines or individual candidate genes using samples derived from patients already treated with drugs, so that very little data are available prior to drug treatment.

Published
2006

2. Integrative annotation of 21,037 human genes validated by full-length cDNA clones

Author

Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi Kanako, O., Barrero Roberto, A., Tamura, Takuro, Yamaguchi-Kabata, Yumi, Tanino, Motohiko, Yura, Kei, Miyazaki, Satoru, Ikeo, Kazuho, Homma, Keiichi, Kasprzyk, Arek, Nishikawa, Tetsuo, Hirakawa, Mika, Thierry-Mieg, Jean, Thierry-Mieg, Danielle, Ashurst, Jennifer, Jia, Libin, Nakao, Mitsuteru, Thomas, Michael, A., Mulder, Nicola, Karavidopoulou, Youla, Jin, Lihua, Kim, Sangsoo, Yasuda, Tomohiro, Lenhard, Boris, Eveno, Eric, Suzuki, Yoshiyuki, Takeda, Jun-Ichi, Gough, Craig, Hilton, Phillip, Fujii, Yasuyuki, Sakai, Hiroaki, Tanaka, Susumu, Amid, Clara, Bellgard, Matthew, de Fatima Bonaldo, Maria, Bono, Hidemasa, Bromberg Susan, K., Brookes Anthony, J., Bruford, Elspeth, Carninci, Piero, Chelala, Claude, Couillault, Christine, de Souza Sandro, J., Debily, Marie-Anne, Devignes, Marie-Dominique, Dubchak, Inna, Endo, Toshinori, Estreicher, Anne, Eyras, Eduardo, Fukami-Kobayashi, Kaoru, Gopinath Gopal, R., Graudens, Esther, Hahn, Yoonsoo, Han, Ze-Guang, Han, Michael, Hanada, Kousuke, Hanaoka, Hideki, Harada, Erimi, Hashimoto, Katsuyuki, Yamasaki, Chisato, Hinz, Ursula, Hirai, Momoki, Hishiki, Teruyoshi, Hopkinson, Ian, Imbeaud, Sandrine, Inoko, Hidetoshi, Kanapin, Alexander, Kaneko, Yayoi, Kasukawa, Takeya, Kelso, Janet, Kersey, Paul, Kikuno, Reiko, Kimura, Kouichi, Korn, Bernhard, Kuryshev, Vladimir, Makalowska, Izabela, Makino, Takashi, Mano, Shuhei, Mariage-Samson, Regine, Mashima, Jun, Matsuda, Hideo, Mewes, Hans-Werner, Minoshima, Shinsei, Nagai, Keiichi, Nagasaki, Hideki, Nagata, Naoki, Nigam, Rajni, Ogasawara, Osamu, Ohara, Osamu, Ohtsubo, Masafumi, Okada, Norihiro, Okido, Toshihisa, Oota, Satoshi, Ota, Motonori, Ota, Toshio, Otsuki, Tetsuji, Piatier-Tonneau, Dominique, Poustka, Annemarie, Ren, Shuang-Xi, Saitou, Naruya, Sakai, Katsunaga, Sakamoto, Shigetaka, Sakate, Ryuichi, Schupp, Ingo, Servant, Florence, Sherry, Stephen, Shiba, Rie, Sugano, Sumio, Knowledge representation, reasonning (ORPAILLEUR), INRIA Lorraine, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Lorrain de Recherche en Informatique et ses Applications (LORIA), Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique de Lorraine (INPL)-Université Nancy 2-Université Henri Poincaré - Nancy 1 (UHP)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique de Lorraine (INPL)-Université Nancy 2-Université Henri Poincaré - Nancy 1 (UHP), Genexpress, Centre National de la Recherche Scientifique (CNRS), The University of Tokyo (UTokyo), and Institut National de Recherche en Informatique et en Automatique (Inria)-Université Henri Poincaré - Nancy 1 (UHP)-Université Nancy 2-Institut National Polytechnique de Lorraine (INPL)-Centre National de la Recherche Scientifique (CNRS)-Université Henri Poincaré - Nancy 1 (UHP)-Université Nancy 2-Institut National Polytechnique de Lorraine (INPL)-Centre National de la Recherche Scientifique (CNRS)

Subjects
human transcriptome, annotation, [INFO.INFO-OH]Computer Science [cs]/Other [cs.OH], full-length cdna, transcriptome humain, cdna complet
Abstract

publication en ligne. Article dans revue scientifique avec comité de lecture. nationale.; National audience; The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.

Published
2004

3. Integrative annotation of 21,037 human genes validated by full-length cDNA clones

Author

Richard Roberts, Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi, Kanako O, Barrero, Roberto A, Tamura, Takuro, Yamaguchi-Kabata, Yumi, Tanino, Motohiko, Yura, Kei, Miyazaki, Satoru, Ikeo, Kazuho, Homma, Keiichi, Kasprzyk, Arek, Nishikawa, Tetsuo, Hirakawa, Mika, Thierry-Mieg, Jean, Thierry-Mieg, Danielle, Ashurst, Jennifer, Jia, Libin, Nakao, Mitsuteru, Thomas, Michael A, Mulder, Nicola, Karavidopoulou, Youla, Jin, Lihua, Kim, Sangsoo, Yasuda, Tomohiro, Lenhard, Boris, Eveno, Eric, Suzuki, Yoshiyuki, Yamasaki, Chisato, Takeda, Jun-ichi, Gough, Craig, Hilton, Phillip, Fujii, Yasuyuki, Sakai, Hiroaki, Tanaka, Susumu, Amid, Clara, Bellgard, Matthew, Bonaldo, Maria de Fatima, Bono, Hidemasa, Bromberg, Susan K, Brookes, Anthony J, Bruford, Elspeth, Carninci, Piero, Chelala, Claude, Couillault, Christine, Souza, Sandro J. de, Debily, Marie-Anne, Devignes, Marie-Dominique, Dubchak, Inna, Endo, Toshinori, Estreicher, Anne, Eyras, Eduardo, Fukami-Kobayashi, Kaoru, R. Gopinath, Gopal, Graudens, Esther, Hahn, Yoonsoo, Han, Michael, Han, Ze-Guang, Hanada, Kousuke, Hanaoka, Hideki, Harada, Erimi, Hashimoto, Katsuyuki, Hinz, Ursula, Hirai, Momoki, Hishiki, Teruyoshi, Hopkinson, Ian, Imbeaud, Sandrine, Inoko, Hidetoshi, Kanapin, Alexander, Kaneko, Yayoi, Kasukawa, Takeya, Kelso, Janet, Kersey, Paul, Kikuno, Reiko, Kimura, Kouichi, Korn, Bernhard, Kuryshev, Vladimir, Makalowska, Izabela, Makino, Takashi, Mano, Shuhei, Mariage-Samson, Regine, Mashima, Jun, Matsuda, Hideo, Mewes, Hans-Werner, Minoshima, Shinsei, Nagai, Keiichi, Nagasaki, Hideki, Nagata, Naoki, Nigam, Rajni, Ogasawara, Osamu, Ohara, Osamu, Ohtsubo, Masafumi, Okada, Norihiro, Okido, Toshihisa, Oota, Satoshi, Ota, Motonori, Ota, Toshio, Otsuki, Tetsuji, Piatier-Tonneau, Dominique, Poustka, Annemarie, Ren, Shuang-Xi, Saitou, Naruya, Sakai, Katsunaga, Sakamoto, Shigetaka, Sakate, Ryuichi, Schupp, Ingo, Servant, Florence, Sherry, Stephen, Shiba, Rie, Shimizu, Nobuyoshi, Shimoyama, Mary, Simpson, Andrew J, Soares, Bento, Steward, Charles, Suwa, Makiko, Suzuki, Mami, Takahashi, Aiko, Tamiya, Gen, Tanaka, Hiroshi, Taylor, Todd, Terwilliger, Joseph D, Unneberg, Per, Veeramachaneni, Vamsi, Watanabe, Shinya, Wilming, Laurens, Yasuda, Norikazu, Yoo, Hyang-Sook, Stodolsky, Marvin, Makalowski, Wojciech, Go, Mitiko, Nakai, Kenta, Takagi, Toshihisa, Kanehisa, Minoru, Sakaki, Yoshiyuki, Quackenbush, John, Okazaki, Yasushi, Hayashizaki, Yoshihide, Hide, Winston, Chakraborty, Ranajit, Nishikawa, Ken, Sugawara, Hideaki, Tateno, Yoshio, Chen, Zhu, Oishi, Michio, Tonellato, Peter, Apweiler, Rolf, Okubo, Kousaku, Wagner, Lukas, Wiemann, Stefan, Strausberg, Robert L, Isogai, Takao, Auffray, Charles, Nomura, Nobuo, Gojobori, Takashi, Sugano, Sumio, Richard Roberts, Imanishi, Tadashi, Itoh, Takeshi, Suzuki, Yutaka, O'Donovan, Claire, Fukuchi, Satoshi, Koyanagi, Kanako O, Barrero, Roberto A, Tamura, Takuro, Yamaguchi-Kabata, Yumi, Tanino, Motohiko, Yura, Kei, Miyazaki, Satoru, Ikeo, Kazuho, Homma, Keiichi, Kasprzyk, Arek, Nishikawa, Tetsuo, Hirakawa, Mika, Thierry-Mieg, Jean, Thierry-Mieg, Danielle, Ashurst, Jennifer, Jia, Libin, Nakao, Mitsuteru, Thomas, Michael A, Mulder, Nicola, Karavidopoulou, Youla, Jin, Lihua, Kim, Sangsoo, Yasuda, Tomohiro, Lenhard, Boris, Eveno, Eric, Suzuki, Yoshiyuki, Yamasaki, Chisato, Takeda, Jun-ichi, Gough, Craig, Hilton, Phillip, Fujii, Yasuyuki, Sakai, Hiroaki, Tanaka, Susumu, Amid, Clara, Bellgard, Matthew, Bonaldo, Maria de Fatima, Bono, Hidemasa, Bromberg, Susan K, Brookes, Anthony J, Bruford, Elspeth, Carninci, Piero, Chelala, Claude, Couillault, Christine, Souza, Sandro J. de, Debily, Marie-Anne, Devignes, Marie-Dominique, Dubchak, Inna, Endo, Toshinori, Estreicher, Anne, Eyras, Eduardo, Fukami-Kobayashi, Kaoru, R. Gopinath, Gopal, Graudens, Esther, Hahn, Yoonsoo, Han, Michael, Han, Ze-Guang, Hanada, Kousuke, Hanaoka, Hideki, Harada, Erimi, Hashimoto, Katsuyuki, Hinz, Ursula, Hirai, Momoki, Hishiki, Teruyoshi, Hopkinson, Ian, Imbeaud, Sandrine, Inoko, Hidetoshi, Kanapin, Alexander, Kaneko, Yayoi, Kasukawa, Takeya, Kelso, Janet, Kersey, Paul, Kikuno, Reiko, Kimura, Kouichi, Korn, Bernhard, Kuryshev, Vladimir, Makalowska, Izabela, Makino, Takashi, Mano, Shuhei, Mariage-Samson, Regine, Mashima, Jun, Matsuda, Hideo, Mewes, Hans-Werner, Minoshima, Shinsei, Nagai, Keiichi, Nagasaki, Hideki, Nagata, Naoki, Nigam, Rajni, Ogasawara, Osamu, Ohara, Osamu, Ohtsubo, Masafumi, Okada, Norihiro, Okido, Toshihisa, Oota, Satoshi, Ota, Motonori, Ota, Toshio, Otsuki, Tetsuji, Piatier-Tonneau, Dominique, Poustka, Annemarie, Ren, Shuang-Xi, Saitou, Naruya, Sakai, Katsunaga, Sakamoto, Shigetaka, Sakate, Ryuichi, Schupp, Ingo, Servant, Florence, Sherry, Stephen, Shiba, Rie, Shimizu, Nobuyoshi, Shimoyama, Mary, Simpson, Andrew J, Soares, Bento, Steward, Charles, Suwa, Makiko, Suzuki, Mami, Takahashi, Aiko, Tamiya, Gen, Tanaka, Hiroshi, Taylor, Todd, Terwilliger, Joseph D, Unneberg, Per, Veeramachaneni, Vamsi, Watanabe, Shinya, Wilming, Laurens, Yasuda, Norikazu, Yoo, Hyang-Sook, Stodolsky, Marvin, Makalowski, Wojciech, Go, Mitiko, Nakai, Kenta, Takagi, Toshihisa, Kanehisa, Minoru, Sakaki, Yoshiyuki, Quackenbush, John, Okazaki, Yasushi, Hayashizaki, Yoshihide, Hide, Winston, Chakraborty, Ranajit, Nishikawa, Ken, Sugawara, Hideaki, Tateno, Yoshio, Chen, Zhu, Oishi, Michio, Tonellato, Peter, Apweiler, Rolf, Okubo, Kousaku, Wagner, Lukas, Wiemann, Stefan, Strausberg, Robert L, Isogai, Takao, Auffray, Charles, Nomura, Nobuo, Gojobori, Takashi, and Sugano, Sumio

Abstract

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition

Published
2004

5. Deciphering cellular states of innate tumor drug responses.

Author

Graudens E, Boulanger V, Mollard C, Mariage-Samson R, Barlet X, Grémy G, Couillault C, Lajémi M, Piatier-Tonneau D, Zaborski P, Eveno E, Auffray C, and Imbeaud S

Subjects
Biopsy, Clinical Trials, Phase II as Topic, Colonic Neoplasms pathology, Colorectal Neoplasms drug therapy, Colorectal Neoplasms pathology, Female, Gene Expression Profiling, Humans, Male, Neoplasm Staging, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Polymerase Chain Reaction, Software, Antineoplastic Agents pharmacology, Colonic Neoplasms drug therapy, Colonic Neoplasms genetics, Colorectal Neoplasms genetics
Abstract

Background: The molecular mechanisms underlying innate tumor drug resistance, a major obstacle to successful cancer therapy, remain poorly understood. In colorectal cancer (CRC), molecular studies have focused on drug-selected tumor cell lines or individual candidate genes using samples derived from patients already treated with drugs, so that very little data are available prior to drug treatment., Results: Transcriptional profiles of clinical samples collected from CRC patients prior to their exposure to a combined chemotherapy of folinic acid, 5-fluorouracil and irinotecan were established using microarrays. Vigilant experimental design, power simulations and robust statistics were used to restrain the rates of false negative and false positive hybridizations, allowing successful discrimination between drug resistance and sensitivity states with restricted sampling. A list of 679 genes was established that intrinsically differentiates, for the first time prior to drug exposure, subsequently diagnosed chemo-sensitive and resistant patients. Independent biological validation performed through quantitative PCR confirmed the expression pattern on two additional patients. Careful annotation of interconnected functional networks provided a unique representation of the cellular states underlying drug responses., Conclusion: Molecular interaction networks are described that provide a solid foundation on which to anchor working hypotheses about mechanisms underlying in vivo innate tumor drug responses. These broad-spectrum cellular signatures represent a starting point from which by-pass chemotherapy schemes, targeting simultaneously several of the molecular mechanisms involved, may be developed for critical therapeutic intervention in CRC patients. The demonstrated power of this research strategy makes it generally applicable to other physiological and pathological situations.

Published
2006
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6. Integrative annotation of 21,037 human genes validated by full-length cDNA clones.

Author

Imanishi T, Itoh T, Suzuki Y, O'Donovan C, Fukuchi S, Koyanagi KO, Barrero RA, Tamura T, Yamaguchi-Kabata Y, Tanino M, Yura K, Miyazaki S, Ikeo K, Homma K, Kasprzyk A, Nishikawa T, Hirakawa M, Thierry-Mieg J, Thierry-Mieg D, Ashurst J, Jia L, Nakao M, Thomas MA, Mulder N, Karavidopoulou Y, Jin L, Kim S, Yasuda T, Lenhard B, Eveno E, Suzuki Y, Yamasaki C, Takeda J, Gough C, Hilton P, Fujii Y, Sakai H, Tanaka S, Amid C, Bellgard M, Bonaldo Mde F, Bono H, Bromberg SK, Brookes AJ, Bruford E, Carninci P, Chelala C, Couillault C, de Souza SJ, Debily MA, Devignes MD, Dubchak I, Endo T, Estreicher A, Eyras E, Fukami-Kobayashi K, Gopinath GR, Graudens E, Hahn Y, Han M, Han ZG, Hanada K, Hanaoka H, Harada E, Hashimoto K, Hinz U, Hirai M, Hishiki T, Hopkinson I, Imbeaud S, Inoko H, Kanapin A, Kaneko Y, Kasukawa T, Kelso J, Kersey P, Kikuno R, Kimura K, Korn B, Kuryshev V, Makalowska I, Makino T, Mano S, Mariage-Samson R, Mashima J, Matsuda H, Mewes HW, Minoshima S, Nagai K, Nagasaki H, Nagata N, Nigam R, Ogasawara O, Ohara O, Ohtsubo M, Okada N, Okido T, Oota S, Ota M, Ota T, Otsuki T, Piatier-Tonneau D, Poustka A, Ren SX, Saitou N, Sakai K, Sakamoto S, Sakate R, Schupp I, Servant F, Sherry S, Shiba R, Shimizu N, Shimoyama M, Simpson AJ, Soares B, Steward C, Suwa M, Suzuki M, Takahashi A, Tamiya G, Tanaka H, Taylor T, Terwilliger JD, Unneberg P, Veeramachaneni V, Watanabe S, Wilming L, Yasuda N, Yoo HS, Stodolsky M, Makalowski W, Go M, Nakai K, Takagi T, Kanehisa M, Sakaki Y, Quackenbush J, Okazaki Y, Hayashizaki Y, Hide W, Chakraborty R, Nishikawa K, Sugawara H, Tateno Y, Chen Z, Oishi M, Tonellato P, Apweiler R, Okubo K, Wagner L, Wiemann S, Strausberg RL, Isogai T, Auffray C, Nomura N, Gojobori T, and Sugano S

Subjects
Alternative Splicing genetics, Genes genetics, Humans, Internet, Microsatellite Repeats genetics, Open Reading Frames genetics, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Protein Structure, Tertiary, Computational Biology methods, DNA, Complementary genetics, Databases, Genetic, Genes physiology, Genome, Human
Abstract

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology., Competing Interests: The authors have declared that no conflicts of interest exist.

Published
2004
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