Keywords: Addiction; Exome; Rare variants; Tobacco; Nicotine; Alcohol; PRS; Pathway analysis;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Músculo; nervio; neuromuscular; miopatÃa; distrofia muscular; neuropatÃa periférica; ADN; exoma; genoma; PCR; MLPA; secuenciamiento de última generación; paneles de genes; Muscle; nerve; neuromuscular; myopathy; muscular dystrophy; peripheral neurop
Keywords: growth hormone; IGF system; growth syndromes; exome; genome; MOPDs;
Keywords: DSD; Testis development; Exome; Whole genome sequencing; Genome mapping;
Keywords: Genetics; Genome; Exome; Sequencing; Next generation sequencing; Analytic validity; Clinical validity; Clinical utility;
Keywords: Pheochromocytomas; Paragangliomas; MERTK; MET; c-MET; H3F3A; FGFR1; Exome;
Keywords: Sepsis; Exome; Rare single nucleotide variation; Population stratification; Classification; Semantic set covering machine;
Keywords: Massively parallel sequencing; High-throughput DNA sequencing; Next-generation sequencing; Myopathy; Muscular diseases; Exome; Genome; Medical genetics; Genetic testing; Mutation; Séquençage massif parallèle; Séquençage à haut débit; Séquençage d
Keywords: Genómica; diagnóstico; microarrays; next-generation sequencing; exoma; genomaGenomics; Diagnose; Microarrays; Next-Generation Sequencing; Exome; Genome
Keywords: Medicina personalizada; Exoma; Leucodistrofia; Paraparesia espástica; Retraso mental no sindrómicoPersonalized medicine; Exome; Leukodystrophy; Spastic paraparesis; Non syndromic mental retardation
Keywords: Ovarian; Serous borderline tumor; Exome; Gene; Mutation;
Keywords: Epilepsy; GWAS; Sequencing; Exome; Genome; Epigenetics; Pathway analysis; Structural variants;
Keywords: Exome; Next-generation; Sequencing; Mendelian; Mutation;
Exome sequencing of synchronously resected primary colorectal tumours and colorectal liver metastases to inform oncosurgical management
Keywords: Colorectal cancer; Exome; Next generation sequencing; Stage IV; Synchronous resection;
Whole Exome Sequencing
Keywords: Fetal; Exome; Sequencing; Prenatal ultrasonography; Abnormalities;
Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting
Keywords: Exome; Next generation sequencing; Neuro-genetic; Phenotype; Variants;
Integrity, standards, and QC-related issues with big data in pre-clinical drug discovery
Keywords: Big data; Genomics; Transcriptomics; RNA-seq; Microarray; Exome;
Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy
Keywords: Exome; Dilated; Cardiomyopathy; Digenic; MYH7; TNNT2;
PTBP1: A candidate gene for intellectual disability
Keywords: Intellectual disability; Exome; PTBP1; Synonymous;
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
Keywords: SPEG; Exome; Centronuclear myopathy; Myotubular myopathy; Whole body MRI;
Comprehensive Genomic Analysis of Metastatic Mucinous Urethral Adenocarcinoma Guides Precision Oncology Treatment: Targetable EGFR Amplification Leading to Successful Treatment With Erlotinib
Keywords: EGFR; Exome; Genome; Transcriptome; Urethral adenocarcinoma;
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
Keywords: CDK5RAP2; Exome; Microcephaly; Speech impairment; Pakistani;
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease
Keywords: Exome; Cardiomyopathy; PNPLA2; NLSD-M; ATGL; Muscle;
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1
Keywords: Williams-Beuren syndrome; Deletion; GABRA1; De novo mutation; Epilepsy; Exome;
Apports de la génétique au diagnostic des troubles du spectre autistique
Keywords: Troubles spectre autistique; Déficience intellectuelle; Phénotype comportemental; Génétique; Syndromes microdélétionnels; CGH Array; Panel de gènes; Exome; Mutations de novo; Autism spectrum disorders; Intellectual deficiency; Behavioral phenotype;
Practicability of detecting somatic point mutation from RNA high throughput sequencing data
Keywords: Somatic mutation; RNAseq; Exome; Generalized linear model
Genetic Factors of the Disease Course after Sepsis: A Genome-Wide Study for 28Â Day Mortality
Keywords: Sepsis; Host response; Genome-wide association study; Mortality; Exome;
Identification of Individual Cancer-Specific Somatic Mutations for Neoantigen-Based Immunotherapy of Lung Cancer
Keywords: Neoantigen; Immunotherapy; Exome; Missense mutation; Genetic data bank;
The Genetic Landscape of Malignant Pleural Mesothelioma: Results from Massively Parallel Sequencing
Keywords: Mesothelioma; Massively parallel sequencing; Genome; Exome; Transcriptome;
Whole-Exome Sequencing Analyses of Inflammatory Bowel Disease−Associated Colorectal Cancers
Keywords: Exome; Sequencing; Ulcerative Colitis; Crohn’s DiseaseCD, Crohn’s disease; CRC, colorectal cancer; IBD, inflammatory bowel disease; IL, interleukin; MSI, microsatellite instability; UC, ulcerative colitis
Place du NGS (Next Generation Sequencing) et de l'ADN tumoral circulant dans le testing moléculaire des cancers bronchiques
Keywords: Séquençage haut débit; Cancer du poumon; ADN tumoral circulant; Addiction oncogénique; Thérapie ciblée; Exome; High throughput sequencing; Lung cancer; Circulating tumor DNA; Oncogenic driver; Targeted therapy; Exome;
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene
Keywords: Tangier disease; ABCA1; HDL; Exome; Genetics;
Using whole exome sequencing and bioformatics in the molecular autopsy of a sudden unexplained death syndrome (SUDS) case
Keywords: Forensic science; Forensic bioinformatics; Sudden unexplained death syndrome (SUDS); Second-generation sequencing; Exome; Disease mutations;
Diagnóstico genómico en neurología clínica
Keywords: Secuenciación genómica; Exoma; Panel de genes; Secuenciación genómica de nueva generaciónGenomic sequencing; Exome; Gene panel; Next generation sequencing
Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation
Keywords: SV2a; epilepsy; exome; levetiracetam;
Exome-level comparison of primary well-differentiated neuroendocrine tumors and their cell lines
Keywords: Pancreatic neuroendocrine tumor; bronchopulmonary carcinoid; cell lines; exome; next-generation sequencing
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
Keywords: Mitochondrial disease; Genomics; Exome; Data sharing;
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
Keywords: PIGT-CDG; Congenital disorder of glycosylation; Glycosylphosphatidylinositol anchor; Phenotype; Flow cytometry; Exome;
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia
Keywords: Exome; Sclerosing bone dysplasia; DMP1
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria
Keywords: Alström syndrome; ALMS1; Autosomal recessive dilated cardiomyopathy; Cone–rod dystrophy; Exome; Genotype–phenotype correlations
Rare Nonsynonymous Exonic Variants in Addiction and Behavioral Disinhibition
Keywords: Addiction; alcohol; behavioral disinhibition; drug; exome; nonsynonymous; tobacco
Usability study of clinical exome analysis software: Top lessons learned and recommendations
Keywords: Exome; Genome; Whole-genome; Next-generation sequencing; Software interface; Usability;
Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome
Keywords: adverse drug event; exome; genetics; long QT interval syndrome; torsade des pointesAAC, amino acid coding; ADR, adverse drug event(s); cLQTS, congenital long QT interval syndrome; diLQTS, drug-induced long QT interval syndrome; EA, European-American; ESP,
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels
Keywords: Exome; Filtering; Software; Mendelian disease; Homozygosity mapping;
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape
Keywords: DMB; dimethylmethylene blue; GAG; glycosaminoglycan; HPLC; high-performance liquid chromatography; LC; liquid chromatography; MPS; mucopolysaccharidosis; MS/MS; tandem mass spectrometry; NRE; non-reducing end; uGAG; urinary glycosaminoglycan; Mucopolysacc
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - Support for the role of K(ATP) channels in this condition
Keywords: Cantú syndrome; Mutation; Exome; Potassium channel;
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria
Keywords: SERAC1; 3-Methylglutaconic; MEGDEL; Exome;
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L
Keywords: Charcot-Marie-Tooth disease; CMT2L; Exome; HSPB8; HSP22; Korean;
A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement
Keywords: Laing distal myopathy; MYH7; Exome; MRI; Korean;
Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape
Keywords: CLIA, Clinical Laboratory Improvements Amendments; NGS, Next generation sequencing; WGS, whole-genome sequencingGenomics; Whole genome sequencing; Ethics; Regulation; CLIA; Exome; Genetic testing