Exome sequencing

Results: 272



#Item
31Exome sequencing / Human genome / Mutation / Compound heterozygosity / Full genome sequencing / Mosaic / Genetic architecture / Timothy syndrome / Epigenetics / Biology / Genetics / Philosophy of biology

Manuscript_Book_chapter_Version5_09272013

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Source URL: biorxiv.org

Language: English
32DNA sequencing / Biochemistry / RNA-Seq / Full genome sequencing / Illumina / Exome sequencing / Sequencing / Single molecule fluorescent sequencing / 454 Life Sciences / Biology / Molecular biology / Genetics

Specification Sheet: Sequencing HiSeq® 3000/HiSeq 4000 Sequencing Systems Setting a new standard for cost-effective, high-throughput, production-scale sequencing across multiple applications. Highlights

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Source URL: dnatech.genomecenter.ucdavis.edu

Language: English - Date: 2015-04-07 17:22:19
33Molecular biology / Genomics / Medical specialties / Rare diseases / Medical genetics / Full genome sequencing / The Centre for Applied Genomics / Molecular genetics / Exome sequencing / Biology / Genetics / Medicine

Rare Genetic Diseases Workshop_final version_public

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Source URL: www.irdirc.org

Language: English - Date: 2014-02-18 03:53:36
34Biological databases / International HapMap Project / HIV / Schizophrenia / Human genome / Single-nucleotide polymorphism / Medical genetics / DbSNP / Biobank / Biology / Genetics / Bioinformatics

Supplementary information for: Exome sequencing and the genetic basis of complex traits Adam Kiezun1,2,14 , Kiran Garimella2,14 , Ron Do2,3,14 , Nathan O. Stitziel4,2,14 , Benjamin M. Neale2,3,13 , Paul J. McLaren1,2 , N

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Source URL: www.nature.com

Language: English - Date: 2012-07-03 06:00:36
35DNA / Molecular biology / Medical genetics / Medical ethics / Genetic testing / Exome sequencing / Full genome sequencing / Human genome / Genetic counseling / Biology / Medicine / Genetics

Genetic Testing: Is This My Path to a Diagnosis? Global Genes Rare Genomics Institute

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Source URL: globalgenes.org

Language: English - Date: 2015-02-05 16:42:00
36Molecular biology / DNA / Genetic mapping / American College of Medical Genetics / Mutalyzer / Leiden Open Variation Database / Exome sequencing / Human genome / Full genome sequencing / Biology / Genetics / Genomics

© American College of Medical Genetics and Genomics ACMG Standards and Guidelines Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American

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Source URL: www.acmg.net

Language: English - Date: 2015-03-05 15:46:29
37DNA sequencing / Genomics / Biotechnology / Exome sequencing / Full genome sequencing / Multiplex / Genotyping / Medical genetics / Sequencing / Biology / Genetics / Molecular biology

ACMG clinical laboratory standards for next-generation sequencing

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Source URL: www.acmg.net

Language: English - Date: 2013-09-06 11:04:58
38DNA sequencing / Genomics / Biotechnology / Exome sequencing / Full genome sequencing / BRCA1 / Human genome / Personalized medicine / Polymerase chain reaction / Biology / Genetics / Molecular biology

13th International Symposium on Mutations in the Genome: detection, genome sequencing & interpretation Holiday Inn Leiden Leiden, The Netherlands 27th – 30th April 2015

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Source URL: s3-ap-southeast-2.amazonaws.com

Language: English - Date: 2015-04-22 02:42:44
39Genomics / Molecular biology / DNA sequencing / DNA / Full genome sequencing / Illumina / Exome / Genome / Genetics / Biology / Bioinformatics

13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation 26th – 30th April 2015 Holiday Inn, Leiden, The Netherlands PROGRAMME

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Source URL: s3-ap-southeast-2.amazonaws.com

Language: English - Date: 2015-03-30 01:24:40
40Copy-number variation / Structural variation / Genomes Project / Comparative genomic hybridization / Human genome / Exome sequencing / The Cancer Genome Atlas / Biology / Genetics / Molecular biology

Targeted analysis of nucleotide and copy number variation by exon capture in allotetraploid wheat genome

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Source URL: www.genomebiology.com

Language: English
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