Exome

Results: 288



#Item
231Genomics / Molecular biology / Cancer research / Public health / Full genome sequencing / Public health genomics / Evidence-based medicine / Human genome / Exome sequencing / Biology / Medicine / Genetics

© American College of Medical Genetics and Genomics Original Research Article Description and pilot results from a novel method for evaluating return of incidental findings from

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Source URL: www.nature.com

Language: English - Date: 2013-09-05 11:06:31
232Motor neurone disease / Molecular biology / Amyotrophic lateral sclerosis / SOD1 / ALS Society of Canada / ALS Association / Spinal muscular atrophy / Superoxide dismutase / Exome sequencing / Biology / Health / Rare diseases

INSIDE RESEARCH ALSTODAY THE ALS ASSOCIATION

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Source URL: www.alsa.org

Language: English - Date: 2011-05-12 15:47:55
233Genomics / American College of Medical Genetics / Full genome sequencing / Public health genomics / Personalized medicine / Human genome / Medical genetics / Exome sequencing / Genetic testing / Biology / Genetics / Medicine

special article © American College of Medical Genetics and Genomics Recommendations for returning genomic incidental findings? We need to talk!

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Source URL: www.nature.com

Language: English - Date: 2014-06-16 12:17:34
234Human genetic variation / Leiden Open Variation Database / Exome sequencing / Wellcome Trust Sanger Institute / Genomes Project / Compound heterozygosity / Genome project / Medical genetics / Penetrance / Biology / Genetics / Human genome

Guidelines for investigating causality of sequence variants in human disease

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Source URL: www.nature.com

Language: English - Date: 2014-04-23 12:59:46
235Gene expression / Spliceosome / Molecular biology / Alternative splicing / RNA-Seq / Intron / Polymerase chain reaction / Exon / Exome sequencing / Biology / Genetics / RNA splicing

PDF Document

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Source URL: www.nature.com

Language: English - Date: 2014-07-22 06:17:02
236DNA sequencing / Bioinformatics / Genomics / Exome sequencing / Full genome sequencing / Cancer genome sequencing / Exome / Biology / Genetics / Molecular biology

PDF Document

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Source URL: www.cing.ac.cy

Language: English - Date: 2014-05-06 01:16:29
237Tumor suppressor genes / Neuroendocrine tumor / Exome sequencing / The Cancer Genome Atlas / AKT / Colorectal cancer / PTEN / Cancer stem cell / Prostate cancer / Medicine / Oncology / Carcinogenesis

Downloaded on May 16, 2013. The Journal of Clinical Investigation. More information at www.jci.org/articles/view[removed]Research article The genomic landscape of small intestine neuroendocrine tumors

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Source URL: www.carcinoid.org

Language: English - Date: 2013-05-17 09:30:06
238DNA sequencing / DNA / Microarrays / Illumina / Exome sequencing / Genotyping / Single-nucleotide polymorphism / Sequencing / Personal genomics / Biology / Genetics / Molecular biology

Guidelines for Approach Section of CIDR Applications Requests for CIDR services are made via an X01 application (PAR[removed]Please use the headings in bold, and provide the information described below for the Approach

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Source URL: www.cidr.jhmi.edu

Language: English - Date: 2014-05-30 09:04:43
239Exome sequencing / Exome / Workflow / GC-content / Sequencing / Shotgun sequencing / Biology / Molecular biology / Biochemistry

Comparison of enzymes, shear time and capture products to improve whole exome sequencing workflow B Marosy, B Craig, K Hetrick, H Ling, A Robinson, J Romm, KF Doheny Center for Inherited Disease Research (CIDR), IGM, JHU

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Source URL: www.cidr.jhmi.edu

Language: English - Date: 2014-05-30 09:09:55
240Biochemistry / DNA sequencing / Biotechnology / DNA / Polymerase chain reaction / Exome sequencing / Full genome sequencing / SNP genotyping / RNA-Seq / Biology / Molecular biology / Genetics

Comparison of conventional and PCR-free library preparation methods for next generation sequencing PD Witmer, B Marosy, B Craig, K Hetrick, H Ling, A Robinson and KF Doheny. Center for Inherited Disease Research (CIDR),

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Source URL: www.cidr.jhmi.edu

Language: English - Date: 2014-05-30 09:09:51
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