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Exome
Results: 288

#	Item
131	Sample Submission Form Testing Services for Rare Mendelian Disorders where Rare is Common Add to Reading List Source URL: www.genedx.com Language: English - Date: 2014-12-23 10:37:57 Syndromes Medical genetics Rare diseases Molecular biology Exome sequencing Aniridia DiGeorge syndrome Retinitis pigmentosa Glycogen storage disease type V Health Biology Genetics
132	Schedule of ASHG Scientific Sessions and Events All events are at the San Diego Convention Center (SDCC), unless otherwise indicated. () Asterisk denotes meetings that are by invitation or pre-registration only. Otherwi Add to Reading List Source URL: www.ashg.org Language: English* - Date: 2014-10-08 10:19:37 Molecular biology Human genetics Bioinformatics Full genome sequencing Exome sequencing Curt Stern Award Exome American Society of Human Genetics Medical genetics Biology Genetics Genomics
133	American Society of Human Genetics 64th Annual Meeting October 18–22, 2014 San Diego, CA PLATFORM ABSTRACTS Abstract Numbers Add to Reading List Source URL: www.ashg.org Language: English - Date: 2014-09-19 10:18:54 Genomics Evolutionary biology Wellcome Trust Exome sequencing Genomes Project Human genome Wellcome Trust Sanger Institute Full genome sequencing Human Genome Project Biology Genetics Molecular biology
134	EDITORIAL Dr. Dmitrij Frishman Professor of Bioinformatics Technische Universität München robert-koch-str. 2 Add to Reading List Source URL: www.biomax.com Language: English - Date: 2014-10-16 12:36:39 Bioinformatics Workflow technology DNA sequencing KNIME Exome sequencing Lumi Biomax Informatics AG Workflow Galaxy Science Software Application software
135	American Society of Human Genetics 63rd Annual Meeting October 22–26, 2013 Boston PLATFORM ABSTRACTS Abstract Numbers Add to Reading List Source URL: www.ashg.org Language: English - Date: 2013-09-18 13:42:42 Molecular biology Genomics Wellcome Trust Medical genetics Exome sequencing Full genome sequencing Human genome Exome Compound heterozygosity Biology Genetics Medicine
136	Poster Walks Leader/Topic Program Number Author Name/Title Add to Reading List Source URL: www.ashg.org Language: English - Date: 2014-09-10 10:15:46 Genomics Exome Full genome sequencing Epigenome Biology Genetics Molecular biology
137	Germline & Somatic Mosaicism Monterey Ballroom Embassy Suites San Diego Bay Downtown San Diego, CA, USA th Add to Reading List Source URL: s3-ap-southeast-2.amazonaws.com Language: English - Date: 2014-10-05 19:18:36 Mosaic Exome Somatic Aneuploidy Mutation Genetics Biology Philosophy of biology
138	Copy Number Variation (CNV) detection in whole exome sequencing data for Mendelian disorders Peng Zhang, Hua Ling, Elizabeth Pugh, Kurt Hetrick, Dane Witmer, Nara Sobreira, David Valle, Kim Doheny Center for Inherited Di Add to Reading List Source URL: www.cidr.jhmi.edu Language: English - Date: 2014-10-16 09:00:59 Copy-number variation DNA sequencing Exome sequencing Full genome sequencing Excavator Medical genetics Center for Applied Genomics Biology Molecular biology Genetics
139	Conference Program – At a Glance 6 November[removed]:00 onwards Registration Add to Reading List Source URL: irdirc-shenzhenconference2014.org Language: English - Date: 2014-10-30 06:52:35 Genomics Molecular biology Emerging technologies Wellcome Trust Full genome sequencing Exome sequencing Wellcome Trust Sanger Institute Personalized medicine Medical genetics Biology Genetics Medicine
140	Next Generation Sequencing: Assuring Analytical Validity Ira M. Lubin, PhD, FACMG Amy S. Gargis, PhD Centers for Disease Control and Prevention Division of Laboratory Science and Standards Add to Reading List Source URL: www.cdc.gov Language: English - Date: 2014-10-28 07:55:51 Biochemistry DNA sequencing Bioinformatics Genomics Sequencing Exome sequencing Full genome sequencing Biology Molecular biology Genetics