Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
about
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientHuman genetics and genomics a decade after the release of the draft sequence of the human genomeHuman genome sequencing in health and diseaseWhole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisSitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and managementMechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskGenetic risk prediction in complex diseasePlant Sterols, Stanols, and SitosterolemiaGenomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics researchNext-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsExome sequencing: a transformative technologyGenomic sequencing in clinical trialsEstimating genotype error rates from high-coverage next-generation sequence data.Inflammatory dilated cardiomyopathy in Abcg5-deficient mice.Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disordersPerformance comparison of whole-genome sequencing platforms.Company profile: Complete Genomics Inc.The role of replicates for error mitigation in next-generation sequencing.VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computerStatistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.Molecular genetic testing and the future of clinical genomics.Patient-controlled encrypted genomic data: an approach to advance clinical genomics.The promise of whole-exome sequencing in medical genetics.In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing.Missing genetic risk in neural tube defects: can exome sequencing yield an insight?Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing.Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.Exome sequencing in Parkinson's disease.Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.You never call, you never write: why return of 'omic' results to research participants is both a good idea and a moral imperative.Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresThe impact of genomics on pediatric research and medicine.DNA sequencing: clinical applications of new DNA sequencing technologies.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids.Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.
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P2860
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Identification by whole-genome ...... or severe hypercholesterolemia
@ast
Identification by whole-genome ...... or severe hypercholesterolemia
@en
Identification by whole-genome ...... or severe hypercholesterolemia
@nl
type
label
Identification by whole-genome ...... or severe hypercholesterolemia
@ast
Identification by whole-genome ...... or severe hypercholesterolemia
@en
Identification by whole-genome ...... or severe hypercholesterolemia
@nl
prefLabel
Identification by whole-genome ...... or severe hypercholesterolemia
@ast
Identification by whole-genome ...... or severe hypercholesterolemia
@en
Identification by whole-genome ...... or severe hypercholesterolemia
@nl
P2093
P2860
P356
P1476
Identification by whole-genome ...... or severe hypercholesterolemia
@en
P2093
Evan Stein
Helen H Hobbs
Jonathan C Cohen
Jonathan Rios
P2860
P304
P356
10.1093/HMG/DDQ352
P50
P577
2010-08-18T00:00:00Z