Exome sequencing - PDFSEARCH.IO - Document Search Engine

Exome sequencing
Results: 272

#	Item
151	ACMG Policy Statement © American College of Medical Genetics and Genomics Points to consider for informed consent for genome/exome sequencing Add to Reading List Source URL: www.nature.com Language: English - Date: 2013-09-05 11:06:39 Genomics Molecular biology Bioinformatics Medical genetics American College of Medical Genetics Full genome sequencing Exome sequencing Exome Association of Canadian Mountain Guides Biology Genetics Medicine
152	ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Open Add to Reading List Source URL: www.nature.com Language: English - Date: 2013-05-06 10:59:49 Molecular biology Ciliopathy Genomics DNA Bardet–Biedl syndrome Human genome Exome sequencing Genetic disorder Medical genetics Biology Genetics Medicine
153	Letters to the Editor ACMG recommendations on incidental findings are flawed scientifically and ethically To the Editor: The “ACMG Recommendations for Reporting Add to Reading List Source URL: www.nature.com Language: English - Date: 2013-09-05 11:06:40 Genomics DNA sequencing Bioinformatics American College of Medical Genetics Full genome sequencing Exome sequencing Exome Incidentalome Association of Canadian Mountain Guides Biology Genetics Molecular biology
154	Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard Add to Reading List Source URL: www.nature.com Language: English - Date: 2013-09-05 11:05:54 Genomics Bioinformatics Emerging technologies Molecular biology American College of Medical Genetics Full genome sequencing Incidentalome Association of Canadian Mountain Guides Exome Biology Medicine Genetics
155	Supplementary Appendix This appendix has been provided by the authors to give readers additional information about their work. Supplement to: Tegtmeyer LC, Rust S, van Scherpenzeel M, et al. Multiple phenotypes in phosph Add to Reading List Source URL: grtc.ucsd.edu Language: English - Date: 2014-05-22 20:11:27 Molecular biology Protein methods Laboratory techniques Polymerase chain reaction Electrophoresis Exome sequencing Gel electrophoresis PGM1 Bradford protein assay Biology Chemistry Biochemistry
156	New gene technique identifies previously hidden causes of brain malformation Add to Reading List Source URL: medicalxpress.com Language: English - Date: 2014-12-04 01:41:19 Biotechnology Medical genetics Evolutionary biology Exome sequencing Mutation Full genome sequencing Genetic testing Oncogenomics Schwannomatosis Biology Genetics Molecular biology
157	Microsoft PowerPoint[removed]Doroshow Clinically-annotated Preclinical Models FNL Board 2-4-2014Revised.pptx Add to Reading List Source URL: deainfo.nci.nih.gov Language: English - Date: 2014-02-26 10:31:15 Amides Lactams Prodrugs Schering-Plough Temozolomide Exome sequencing Melanoma DecisionDx-UM Medicine Biology Oncology
158	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
159	Exome Genotyping Arrays Gonçalo Abecasis and Benjamin Neale Motivation for an Exome Array • Current sequencing studies are well powered to discover exome variants that contribute to disease Add to Reading List Source URL: genome.sph.umich.edu Language: English - Date: 2011-10-10 09:41:56 DNA Genomics Bioinformatics Exome sequencing Single-nucleotide polymorphism Genotyping Mutation Genomes Project Full genome sequencing Biology Genetics Molecular biology
160	Articles A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data © 2014 Nature America, Inc. All rights reserved. Add to Reading List Source URL: www.yandell-lab.org Language: English - Date: 2014-07-09 14:24:10 Genetic linkage Compound heterozygosity Exome sequencing Penetrance Full genome sequencing Genetic screen Genetic disorder Human genome Single-nucleotide polymorphism Biology Genetics Philosophy of biology

UPDATE