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Exome sequencing
Results: 272

#	Item
241	Peter Bauer Tübingen 7th European Conference on Rare Diseases & Orphan Products Berlin, [removed] Add to Reading List Source URL: www.rare-diseases.eu Language: English - Date: 2014-05-20 04:50:32 Biochemistry Genetics Gene Gene expression Exome sequencing Biology Molecular biology DNA sequencing
242	THEME 1 : Improving Healthcare Services Saturday, 10 May 2014 Advances in Diagnostic Possibillities for Undiagnosed Patients Add to Reading List Source URL: www.rare-diseases.eu Language: English - Date: 2014-05-20 04:47:49 Molecular biology DNA sequencing Human genetics Exome sequencing Exome Genome Human genome Wellcome Trust Sanger Institute Sequencing Biology Genetics Genomics
243	Ensuring Rapid Translation of Science to Services while Ensuring Quality and Affordability Organisation of exome sequencing, an example from Add to Reading List Source URL: www.rare-diseases.eu Language: English - Date: 2014-05-20 04:52:55 Genomics Human genetics Genetic mapping Medical genetics Exome Genetic testing Human genome Genome Biology Genetics Medicine
244	Microsoft Word - HammerP-Doc2012.docx Add to Reading List Source URL: www.anthgen.org Language: English - Date: 2012-06-07 16:17:10 Molecular biology Bioinformatics Genomics Workflow technology Full genome sequencing Exome Workflow Sequencing Exome sequencing Biology Genetics Science
245	NGS white paper copy.pages Add to Reading List Source URL: www.ctgt.net Language: English - Date: 2014-05-20 19:45:30 DNA sequencing Exome sequencing Indel Sequencing Genomes Project Polymerase chain reaction Massive parallel sequencing Biology Molecular biology Biochemistry
246	J Clin Immunol[removed]:540–549 DOI[removed]s10875[removed]ORIGINAL RESEARCH Newborn Screening for SCID Identifies Patients with Ataxia Add to Reading List Source URL: compbio.berkeley.edu Language: English - Date: 2013-06-10 14:41:50 T cells Proteins Molecular biology Severe combined immunodeficiency Ataxia telangiectasia Exome sequencing T cell deficiency T-cell receptor excision circles T cell Biology Health Medicine
247	PGFI is co-directed by Junhyong Kim, PhD and Jim Eberwine, PhD University of Pennsylvania 302 Lynch Laboratories 433 S. University Ave. Philadelphia, PA 19104 Add to Reading List Source URL: files.genomics.upenn.edu Language: English - Date: 2013-09-16 14:43:02 Genomics Gene expression RNA Human genome Full genome sequencing Exome sequencing RNA-Seq Genomes Project Gene Biology Genetics Molecular biology
248	American College of Medical Genetics and Genomics ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing Robert C. Green, MD, MPH1,2, Jonathan S. Berg, MD, PhD3, Wayne W. Grod Add to Reading List Source URL: www.acmg.net Language: English - Date: 2013-03-20 16:40:24 Genomics Molecular biology Emerging technologies DNA sequencing Full genome sequencing Exome sequencing American College of Medical Genetics Human genome Medical genetics Biology Genetics Medicine
249	© American College of Medical Genetics and Genomics ACMG Policy Statement ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Add to Reading List Source URL: www.acmg.net Language: English - Date: 2013-07-24 15:38:09 Genomics Molecular biology DNA sequencing Emerging technologies Full genome sequencing American College of Medical Genetics Exome sequencing Illumina Medical genetics Biology Genetics Medicine
250	Commentary © American College of Medical Genetics and Genomics The shifting model in clinical diagnostics: how next-generation sequencing and families are altering Add to Reading List Source URL: matt.might.net Language: English - Date: 2014-03-20 13:37:09 Molecular biology Emerging technologies Genomics Biotechnology Medical specialties Full genome sequencing Exome sequencing Medical genetics Ataxia telangiectasia Biology Medicine Genetics

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