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Disease gene identification
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1	Topics in Human Genetics Summer Course 2016 The objective of the course is to provide persons familiar with genetics a broad overview of gene identification, molecular genetics, complex disease, next generation sequencin Add to Reading List Source URL: www.medicine.uiowa.edu Language: English - Date: 2016-06-07 17:08:49 Biotechnology Molecular biology Bioinformatics Medical genetics DNA sequencing Genetics Wellcome Trust Sanger Institute Icahn Institute for Genomics and Multiscale Biology
2	Poly mutant MAPT- gene variant for the generation of human Tauopathies ex vivo and for the identification of new therapeutic options for the treatment of dementias like Alzheimer s disease Projekt: 7222 Description: Add to Reading List Source URL: spva.de Language: English - Date: 2013-07-05 05:02:49
3	Next generation sequencing in research and diagnostics; from gene to genome Joris Veltman, PhD Associate Professor Dept. Human Genetics, Radboud University Nijmegen Medical Centre Add to Reading List Source URL: www.nierstichting.nl Language: English - Date: 2010-01-27 08:07:50 Genomics Bioinformatics Genetic mapping Human genome Full genome sequencing Copy-number variation DNA sequencing Genome Disease gene identification Biology Genetics Molecular biology
4	Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families Add to Reading List Source URL: genomemedicine.com Language: English Familial adenomatous polyposis Exome sequencing SNP genotyping Single-nucleotide polymorphism Polymerase chain reaction DbSNP Disease gene identification Restriction fragment length polymorphism Mutation Biology Molecular biology Genetics
5	Sydney Medical School[removed]Summer Research Scholarship Project Project Title: Unravelling the molecular basis of motor and sensory nerve death Host School/ Institute Add to Reading List Source URL: sydney.edu.au Language: English - Date: 2014-08-12 23:24:57 Molecular biology Bioinformatics Charcot–Marie–Tooth disease Full genome sequencing Molecular genetics Genome Neurogenetics Disease gene identification Wellcome Trust Sanger Institute Biology Genetics Genomics
6	Euphytica DOI[removed]s10681[removed]Genetic analysis and identification of DNA markers linked to a novel Phytophthora sojae resistance gene in the Japanese soybean cultivar Waseshiroge Add to Reading List Source URL: www.caf.wvu.edu Language: English - Date: 2011-09-20 09:02:54 Molecular biology Phytophthora sojae Energy crops Phytophthora Disease resistance in fruit and vegetables Plant breeding Aspergillus sojae Soybean Microsatellite Biology Agriculture Genetics
7	BRIEF REPORT Homozygosity mapping: One more tool in the clinical geneticist’s toolbox Fowzan S. Alkuraya, MD1,2,3 Abstract: Consanguinity increases the coefficient of inbreeding, which Add to Reading List Source URL: www.nature.com Language: English - Date: 2012-01-04 14:12:58 Genomics Population genetics Mutation Disease gene identification Microsatellite Inbreeding Single-nucleotide polymorphism Human genome Medical genetics Biology Genetics Molecular biology
8	ARTICLE Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families Marc V. Singleton,1 Stephen L. Guthery,5 Karl V. Voelkerding, Add to Reading List Source URL: www.yandell-lab.org Language: English - Date: 2014-08-27 19:38:12 Gene Ontology Single-nucleotide polymorphism Compound heterozygosity Exome sequencing Genomes Project Phenotypic trait Dominance Genotype Exome Biology Genetics Philosophy of biology
9	Genetic Epidemiology RESEARCH ARTICLE VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Add to Reading List Source URL: www.yandell-lab.org Language: English - Date: 2013-11-18 14:45:41 DNA Molecular biology Population genetics Human genome Single-nucleotide polymorphism Genome-wide association study Complete Genomics Biology Genetics Genomics
10	The Identification of Gut Neuroendocrine Tumor Disease by Multiple Synchronous Transcript Analysis in Blood Irvin M. Modlin, Ignat Drozdov, Mark Kidd Department of Surgery, Yale University School of Medicine, New Haven, Add to Reading List Source URL: www.carcinoid.org Language: English* - Date: 2013-12-18 10:17:39 Chemistry Polymerase chain reaction Laboratory techniques Biotechnology Neuroendocrine tumor Microarrays Real-time polymerase chain reaction Gene expression profiling Reverse transcription polymerase chain reaction Biology Molecular biology Biochemistry