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Exome sequencing
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#	Item
161	Microsoft PowerPoint[removed]d TCGA Wilson.ppt [Compatibility Mode] Add to Reading List Source URL: deainfo.nci.nih.gov Language: English - Date: 2011-04-19 12:38:33 Molecular biology Tumor suppressor genes Microarrays 454 Life Sciences Illumina BRCA1 P53 The Cancer Genome Atlas Exome sequencing Biology Genetics DNA sequencing
162	UCHC/PERKIN ELMER Sequencing Request and Submission Process 1. UCHC Principal Investigator (PI) submits project details directly to Jennifer Rose ([removed]). Jennifer will work with the Investigator Add to Reading List Source URL: ngs.cam.uchc.edu Language: English - Date: 2014-03-05 09:12:43 DNA sequencing DNA Gene expression RNA RNA-Seq Illumina University of Connecticut PerkinElmer Exome Biology Genetics Molecular biology
163	Original Research Article © American College of Medical Genetics and Genomics A survey of informatics approaches to wholeexome and whole-genome clinical reporting in the electronic health record Add to Reading List Source URL: www.nature.com Language: English - Date: 2013-10-31 14:22:21 Genetics Molecular biology Medical informatics Genomics International standards Electronic health record Full genome sequencing Exome sequencing Electronic medical record Biology Health Health informatics
164	guest editorial GuestEditorial BY MEGAN GROVE, MS, CGC, GENETIC COUNSELOR, STANFORD CLINICAL GENOMICS SERVICE AND STANFORD CENTER FOR INHERITED CARDIOVASCULAR DISEASE Add to Reading List Source URL: www.bcr.org Language: English - Date: 2014-06-25 19:38:04 Genomics DNA sequencing DNA Bioinformatics Full genome sequencing Exome sequencing Expressed sequence tag Single-nucleotide polymorphism 454 Life Sciences Biology Genetics Molecular biology
165	APOB, a gene involved in lipid transport, linked to cases of familial extreme longevity Add to Reading List Source URL: medicalxpress.com Language: English - Date: 2014-11-28 14:14:29 Biochemistry Chemistry Lipoprotein Longevity Exome sequencing Apolipoproteins Biology Apolipoprotein B
166	ARTICLE The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases William A. Gahl, MD, PhD1,2,3, Thomas C. Markello, MD, PhD2, Camilo Toro, MD1, Karin Fuentes Fajardo, BS1, Murat Sincan Add to Reading List Source URL: www.fodsupport.org Language: English - Date: 2012-05-31 13:41:07 DNA National Institutes of Health Genomics Full genome sequencing Exome sequencing Human genome SNP genotyping Genomes Project Single-nucleotide polymorphism Biology Genetics Molecular biology
167	Migrating partial seizures of infancy: delineation of the clinical and genetic features in a national patient cohort Add to Reading List Source URL: download.thelancet.com Language: English Molecular biology Exome sequencing Great Ormond Street Hospital University College London Exome UCL Institute of Child Health Illumina Genomics Biology DNA sequencing Genetics
168	Microsoft PowerPoint - Watson.ppt Add to Reading List Source URL: www.fda.gov Language: English Genetics Genomics American College of Medical Genetics Exome sequencing Association of Canadian Mountain Guides Exome Copy-number variation Validation Genome Biology Molecular biology DNA sequencing
169	The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL[removed]Toll Free: [removed] \| Local: [removed] \| Fax: [removed]removed] \| d Add to Reading List Source URL: dnatesting.uchicago.edu Language: English - Date: 2014-08-01 13:39:45 Syndromes Molecular biology Mutation Aniridia Exome sequencing Rett syndrome Gene duplication Biology Health Genetics
170	W HIT E PA PE R Identify a genetic disorder with HGMD® We are entering a new era of genetic counseling and medical care. Next Generation Sequencing (“NGS”) technology provides the ability to establish a causal Add to Reading List Source URL: www.biobase-international.com Language: English - Date: 2012-08-14 11:18:49 Molecular biology Genomics Channelopathy Ciliopathy Exome sequencing Retinitis pigmentosa Joubert syndrome Nephronophthisis Full genome sequencing Biology Genetics Health

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