Exome

Results: 288



#Item
171Genetic linkage / Compound heterozygosity / Exome sequencing / Penetrance / Full genome sequencing / Genetic screen / Genetic disorder / Human genome / Single-nucleotide polymorphism / Biology / Genetics / Philosophy of biology

Articles A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data © 2014 Nature America, Inc. All rights reserved.

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Source URL: www.yandell-lab.org

Language: English - Date: 2014-07-09 14:24:10
172Molecular biology / Tumor suppressor genes / Microarrays / 454 Life Sciences / Illumina / BRCA1 / P53 / The Cancer Genome Atlas / Exome sequencing / Biology / Genetics / DNA sequencing

Microsoft PowerPoint[removed]d TCGA Wilson.ppt [Compatibility Mode]

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Source URL: deainfo.nci.nih.gov

Language: English - Date: 2011-04-19 12:38:33
173DNA sequencing / DNA / Gene expression / RNA / RNA-Seq / Illumina / University of Connecticut / PerkinElmer / Exome / Biology / Genetics / Molecular biology

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

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Source URL: ngs.cam.uchc.edu

Language: English - Date: 2014-03-05 09:12:43
174Genetics / Molecular biology / Medical informatics / Genomics / International standards / Electronic health record / Full genome sequencing / Exome sequencing / Electronic medical record / Biology / Health / Health informatics

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

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Source URL: www.nature.com

Language: English - Date: 2013-10-31 14:22:21
175Genomics / DNA sequencing / DNA / Bioinformatics / Full genome sequencing / Exome sequencing / Expressed sequence tag / Single-nucleotide polymorphism / 454 Life Sciences / Biology / Genetics / Molecular biology

guest editorial GuestEditorial BY MEGAN GROVE, MS, CGC, GENETIC COUNSELOR, STANFORD CLINICAL GENOMICS SERVICE AND STANFORD CENTER FOR INHERITED CARDIOVASCULAR DISEASE

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Source URL: www.bcr.org

Language: English - Date: 2014-06-25 19:38:04
176Biochemistry / Chemistry / Lipoprotein / Longevity / Exome sequencing / Apolipoproteins / Biology / Apolipoprotein B

APOB, a gene involved in lipid transport, linked to cases of familial extreme longevity

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Source URL: medicalxpress.com

Language: English - Date: 2014-11-28 14:14:29
177DNA / National Institutes of Health / Genomics / Full genome sequencing / Exome sequencing / Human genome / SNP genotyping / Genomes Project / Single-nucleotide polymorphism / Biology / Genetics / Molecular biology

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

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Source URL: www.fodsupport.org

Language: English - Date: 2012-05-31 13:41:07
178Molecular biology / Exome sequencing / Great Ormond Street Hospital / University College London / Exome / UCL Institute of Child Health / Illumina / Genomics / Biology / DNA sequencing / Genetics

Migrating partial seizures of infancy: delineation of the clinical and genetic features in a national patient cohort

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Source URL: download.thelancet.com

Language: English
179Genetics / Genomics / American College of Medical Genetics / Exome sequencing / Association of Canadian Mountain Guides / Exome / Copy-number variation / Validation / Genome / Biology / Molecular biology / DNA sequencing

Microsoft PowerPoint - Watson.ppt

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Source URL: www.fda.gov

Language: English
180Syndromes / Molecular biology / Mutation / Aniridia / Exome sequencing / Rett syndrome / Gene duplication / Biology / Health / Genetics

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

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Source URL: dnatesting.uchicago.edu

Language: English - Date: 2014-08-01 13:39:45
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