Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. - Wikidata - wikimedia - TriplyDB

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

http://www.wikidata.org/entity/Q34820081

about

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease Medical implications of technical accuracy in genome sequencing BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism Clinical application of next-generation sequencing for Mendelian diseases The Human Genome Project, and recent advances in personalized genomics Genomics, personalized medicine, and pediatrics Applicability of digital PCR to the investigation of pediatric-onset genetic disorders MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes Genomic intensive care: should we perform genome testing in critically ill newborns?Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research setting Individualized medicine from prewomb to tomb ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Are physicians prepared for whole genome sequencing? a qualitative analysis Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.Sudden Unexpected Death in Fetal Life Through Early Childhood Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Technology-driven diagnostics: From smart doctor to smartphone.Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID)Genetic-based prediction of disease traits: prediction is very difficult, especially about the future Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing.To disclose, or not to disclose? Context matters.Sequencing studies in human genetics: design and interpretation.Newborn screening: adapting to advancements in whole-genome sequencing.Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice.Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues Molecular genetic testing and the future of clinical genomics.Public views on participating in newborn screening using genome sequencing De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria The evolution of nanopore sequencing.A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

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Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

http://www.wikidata.org/entity/Q34820081

description

2012 nî lūn-bûn

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2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Rapid whole-genome sequencing ...... neonatal intensive care units.

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Carol Jean Saunders

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Darrell Lee Dinwiddie

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Elliott Harrison Margulies

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P2860

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

Human genome sequencing in health and disease

Treatment for mitochondrial disorders

Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex

Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma

Essential role of BCL9-2 in the switch between beta-catenin's adhesive and transcriptional functions

Accurate and comprehensive sequencing of personal genomes

A map of human genome variation from population-scale sequencing

A mitochondrial protein compendium elucidates complex I disease biology

The $1,000 genome, the $100,000 analysis?

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