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1. Gene discovery for disease models
by Gu, Weikuan and Wang, Yongjun
2011, ISBN 047049946X, xiii, 537
This book provides readers with new paradigms on the mutation discovery in the post-genome era. The completion of human and other genome sequencing, along with... 
Biotechnology | SCIENCE | Genetic disorders | Genomics | Mutation (Biology) | Medical genetics
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2. In silico tools for gene discovery
by Yu, Bing and Hinchcliffe, Marcus
2011, Methods in molecular biology, ISBN 9781617791758, Volume 760., xi, 365
Genetic Markers | Genetic Association Studies | Genetic Techniques | methods | Functional genomics | Génomique fonctionnelle
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3. Full Text Exome sequencing as a tool for Mendelian disease gene discovery
by Shendure, Jay and Bamshad, Michael J and Ng, Sarah B and Emond, Mary J and Nickerson, Deborah A and Bigham, Abigail W and Tabor, Holly K
Nature Reviews Genetics, ISSN 1471-0056, 11/2011, Volume 12, Issue 11, pp. 745 - 755
Exome sequencing-the targeted sequencing of the subset of the human genome that is protein coding-is a powerful and cost-effective new tool for dissecting the... 
HETEROGENEITY | MUTATION-RATE | MENTAL-RETARDATION | RARE VARIANTS | MULTIPLEX AMPLIFICATION | DNA | GENETICS & HEREDITY | SELECTION | PROTEIN FUNCTION | CAPTURE | ASSOCIATION | Exome - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Phenotype | Pedigree | Base Sequence | Humans | Alleles | Molecular Sequence Data | Genome, Human | Sequence Analysis, DNA - methods | Usage | Genetic disorders | Research | Diagnosis | Nucleotide sequencing | Exon (Molecular genetics)
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4. Full Text The Matchmaker Exchange: a platform for rare disease gene discovery
by Philippakis, A.A and Azzariti, D.R and Beltran, S and Brookes, A.J and Brownstein, C.A and Brudno, M and Brunner, H.G and Buske, O.J and Carey, K and Doll, C and Dumitriu, S and Dyke, S.O.M and Dunnen, J.T. den and Firth, H.V and Gibbs, R.A and Girdea, M and Gonzalez, M and Haendel, M.A and Hamosh, A and Holm, I.A and Huang, L and Hurles, M.E and Hutton, B and Krier, J.B and Misyura, A and Mungall, C.J and Paschall, J and Paten, B and Robinson, P.N and Schiettecatte, F and Sobreira, N.L and Swaminathan, G.J and Taschner, P.E.M and Terry, S.F and Washington, N.L and Zuchner, S and Boycott, K.M and Rehm, H.L and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 10, pp. 915 - 921
There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the... 
GA4GH, IRDiRC | rare disease | Matchmaker Exchange | gene discovery | matchmaking | genomic API | Genomic API | Matchmaking | Gene discovery | Rare disease | GENETICS & HEREDITY | IDENTIFICATION | TOOL | Rare Diseases - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Database Management Systems | Humans | Information Dissemination - methods | Databases, Genetic | Software | Boycotts | Children's hospitals | Genes | Genomics | Application programming interface | Genetic disorders | Mutation | Data bases | BASIC BIOLOGICAL SCIENCES | 60 APPLIED LIFE SCIENCES | IRDiRC | GA4GH
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5. Full Text Computational tools for prioritizing candidate genes: Boosting disease gene discovery
by Moreau, Yves and Tranchevent, Léon-Charles
Nature Reviews Genetics, ISSN 1471-0056, 08/2012, Volume 13, Issue 8, pp. 523 - 536
At different stages of any research project, molecular biologists need to choose - often somewhat arbitrarily, even after careful statistical data analysis -... 
PROTEIN | GENETICS & HEREDITY | LINKING GENES | INTERACTION NETWORKS | HETEROGENEOUS DATA SOURCES | INFORMATION EXTRACTION | ENRICHMENT ANALYSIS | EXPRESSION | WEB-SERVER | GENOME | PREDICTION | Haploinsufficiency - genetics | Computational Biology - methods | Genetic Predisposition to Disease | Animals | Genetic Association Studies - statistics & numerical data | Humans | Databases, Genetic | Genetic Association Studies - methods | Mice | Models, Genetic | Genetic research | Technology application | Usage | Applications software
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6. Full Text Cancer gene discovery in hepatocellular carcinoma
by Zender, Lars and Villanueva, Augusto and Tovar, Victoria and Sia, Daniela and Chiang, Derek Y and Llovet, Josep M
Journal of Hepatology, ISSN 0168-8278, 2010, Volume 52, Issue 6, pp. 921 - 929
Hepatocellular carcinoma (HCC) is a deadly cancer, whose incidence is increasing worldwide. Albeit the main risk factors for HCC development have been clearly... 
Gastroenterology and Hepatology | Signaling pathways | Hepatocellular carcinoma | High-throughput technology | Mouse models | RNA-interference | HEPATOCYTE GROWTH-FACTOR | C-MYC | BETA-CATENIN | ABNORMAL-DEVELOPMENT | LIVER-CANCER | POOR-PROGNOSIS | GENOMIC PROGRESSION | TUMOR-SUPPRESSOR | TRANSGENIC MOUSE MODEL | GASTROENTEROLOGY & HEPATOLOGY | EXPRESSION SIGNATURE | Animals | Liver Neoplasms - genetics | Carcinoma, Hepatocellular - genetics | Humans | Gene Expression Regulation, Neoplastic | Liver Neoplasms - metabolism | Mice | Signal Transduction - genetics | Carcinoma, Hepatocellular - metabolism | Disease Models, Animal | Transposons | Phosphatases | RNA | Alcoholism | Development and progression | Hepatoma | Risk factors | Proteins | Virus diseases | Hepatitis | Liver cancer | Analysis | Genetic research | Cytogenetics | Genetic aspects | Health aspects | Vascular endothelial growth factor | Protein kinases | Liver cirrhosis | Growth factors | Cancer | Index Medicus
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7. Full Text Next-generation diagnostics and disease-gene discovery with the Exomiser
by Smedley, Damian and Jacobsen, Julius O.B and Jäger, Marten and Köhler, Sebastian and Holtgrewe, Manuel and Schubach, Max and Siragusa, Enrico and Zemojtel, Tomasz and Buske, Orion J and Washington, Nicole L and Bone, William P and Haendel, Melissa A and Robinson, Peter N
Nature Protocols, ISSN 1754-2189, 12/2015, Volume 10, Issue 12, pp. 2004 - 2015
Exomiser is an application that prioritizes genes and variants in next-generation sequencing (NGS) projects for novel disease-gene discovery or differential... 
EXOME | RARE DISEASES | VARIANTS | SEQUENCE DATA | CANDIDATE GENES | BIOCHEMICAL RESEARCH METHODS | NATIONAL CENTER | PRIORITIZATION | MENDELIAN DISEASES | HUMAN PHENOTYPE ONTOLOGY | SEMANTIC SIMILARITY | Exome | Software | High-Throughput Nucleotide Sequencing - methods | Genetic Testing - methods | Sequence Analysis, DNA - methods | Humans | Genetic disorders | Genes | Exome sequencing | Diagnosis | Health aspects | Identification and classification | Methods | Genetic screening
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8. Full Text BCL2 and miR-15/16: From gene discovery to treatment
by Pekarsky, Yuri and Balatti, Veronica and Croce, Carlo M
Cell Death and Differentiation, ISSN 1350-9047, 2018, Volume 25, Issue 1, pp. 21 - 26
In 1984, we investigated the t(14;18) chromosomal translocations that frequently occur in patients with follicular lymphoma. We first identified a locus on... 
B-CELLS | CLL | HUMAN FOLLICULAR LYMPHOMA | DNA METHYLATION | MANTLE CELL LYMPHOMA | BIOCHEMISTRY & MOLECULAR BIOLOGY | DOWN-REGULATION | 13Q14 | CHRONIC LYMPHOCYTIC-LEUKEMIA | INDUCE APOPTOSIS | CANCER | CELL BIOLOGY | Chromosome Deletion | Chromosomes, Human, Pair 13 - genetics | Humans | Gene Expression Regulation, Neoplastic | Antineoplastic Agents - therapeutic use | Genes, bcl-2 | Leukemia, Lymphocytic, Chronic, B-Cell - genetics | Proto-Oncogene Proteins c-bcl-2 - metabolism | Animals | Sulfonamides - therapeutic use | Bridged Bicyclo Compounds, Heterocyclic - therapeutic use | Proto-Oncogene Proteins c-bcl-2 - antagonists & inhibitors | Mice | MicroRNAs - genetics | Leukemia, Lymphocytic, Chronic, B-Cell - drug therapy | Proto-Oncogene Proteins c-bcl-2 - genetics | Chromosome Disorders - genetics | Regulators | Chronic lymphatic leukemia | MiRNA | Lymphatic leukemia | Lymphoma | Loci | Suppressors | Chromosome translocations | Ribonucleic acids | Chromosome 14 | Chromosomes | Apoptosis | Chromosome 18 | Cancer | Review
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9. Full Text Epi4K: Gene discovery in 4,000 genomes
by McMullin, Darcy and Epi4K Consortium and The Epi4K Consortium
Epilepsia, ISSN 0013-9580, 08/2012, Volume 53, Issue 8, pp. 1457 - 1467
Summary A major challenge in epilepsy research is to unravel the complex genetic mechanisms underlying both common and rare forms of epilepsy, as well as the... 
Prognosis | Epilepsy | Phenotyping | Epileptic encephalopathies | Genetics | Sequencing | Copy number variants | ASSOCIATION ANALYSIS | BRD2 RING3 | 16P13.11 PREDISPOSE | SUSCEPTIBILITY LOCI | CLINICAL NEUROLOGY | 15Q13.3 MICRODELETIONS | INFANTILE SPASMS | IDIOPATHIC GENERALIZED EPILEPSY | RISK-FACTOR | FAMILY QUARTET | Genetic Predisposition to Disease - genetics | National Institute of Neurological Disorders and Stroke (U.S.) | United States | Humans | Genes - genetics | Genetic Association Studies - methods | Epilepsy - genetics | DNA Copy Number Variations - genetics | Genome, Human - genetics | Epilepsy - diagnosis | Genetic research | Nervous system diseases | Universities and colleges | Analysis | Genomics | Genomes | Special Report
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