Whole-genome sequencing for optimized patient management - Test2 - elhamkhani - TriplyDB

Whole-genome sequencing for optimized patient management

Whole-genome sequencing for optimized patient management

http://www.wikidata.org/entity/Q35857612

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Human genome sequencing in health and disease Ultra-rare Disease and Genomics-Driven Precision Medicine High-throughput sequencing for biology and medicine Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism Clinical application of next-generation sequencing for Mendelian diseases Promise of personalized omics to precision medicine Disease gene identification strategies for exome sequencing The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public Structural variation mutagenesis of the human genome: Impact on disease and evolution.A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases Ethical considerations of research policy for personal genome analysis: the approach of the Genome Science Project in Japan Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis Systems biology: personalized medicine for the future?PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.Sorting out sequencing data.Pharmacogenomics and personalized medicine in neuropsychiatry.Molecular genetic testing and the future of clinical genomics.Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.Clinical whole-exome sequencing for the diagnosis of mendelian disorders.Atlas2 Cloud: a framework for personal genome analysis in the cloud MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.The unintended implications of blurring the line between research and clinical care in a genomic age.Deep sequencing of patient genomes for disease diagnosis: when will it become routine?Delivery of a clinical genomics service Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Selective constraint, background selection, and mutation accumulation variability within and between human populations.Clinical analysis of genome next-generation sequencing data using the Omicia platform.'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

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Whole-genome sequencing for optimized patient management

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2011年论文

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2011年论文

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Whole-genome sequencing for optimized patient management

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Whole-genome sequencing for optimized patient management

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Whole-genome sequencing for optimized patient management

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Whole-genome sequencing for optimized patient management

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Whole-genome sequencing for optimized patient management

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Whole-genome sequencing for optimized patient management

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SCITRANSLMED.3002243

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Science Translational Medicine

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Whole-genome sequencing for optimized patient management

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David R Murdock

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Donna M Muzny

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Irene Newsham

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James R Lupski

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Jeffrey G Reid

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Jennifer Friedman

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Linh D Hoang

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Margaret B Morgan

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Marie-Claude Gingras

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BFAST: an alignment tool for large scale genome resequencing

Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors

The Sequence of the Human Genome

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

The complete genome of an individual by massively parallel DNA sequencing

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

dbSNP: the NCBI database of genetic variation

A map of human genome variation from population-scale sequencing

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

SNPdetector: a software tool for sensitive and accurate SNP detection.

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87

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Claudia Gonzaga-Jauregui

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2011-06-01T00:00:00Z

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