Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes
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Volume 9, issue 1, December 2016
52 articles in this issue
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DNA methylation patterns associated with oxidative stress in an ageing population
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“A rising tide lifts all boats”: establishing a multidisciplinary genomic tumor board for breast cancer patients with advanced disease
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A meta-analysis of public microarray data identifies gene regulatory pathways deregulated in peripheral blood mononuclear cells from individuals with Systemic Lupus Erythematosus compared to those without
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Adaptation of a RAS pathway activation signature from FF to FFPE tissues in colorectal cancer
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Pitfalls of improperly procured adjacent non-neoplastic tissue for somatic mutation analysis using next-generation sequencing
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Protecting genomic data analytics in the cloud: state of the art and opportunities
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The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum
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An adaptive detection method for fetal chromosomal aneuploidy using cell-free DNA from 447 Korean women
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Genome-wide positioning of bivalent mononucleosomes
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Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
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A 19-Gene expression signature as a predictor of survival in colorectal cancer
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Known unknowns: building an ethics of uncertainty into genomic medicine
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Explorations to improve the completeness of exome sequencing
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Within-pair differences of DNA methylation levels between monozygotic twins are different between male and female pairs
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Reliable gene expression profiling of formalin-fixed paraffin-embedded breast cancer tissue (FFPE) using cDNA-mediated annealing, extension, selection, and ligation whole-genome (DASL WG) assay
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Reproducible detection of disease-associated markers from gene expression data
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Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views
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A network based approach to drug repositioning identifies plausible candidates for breast cancer and prostate cancer
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Shared and unique common genetic determinants between pediatric and adult celiac disease
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Dealing with prognostic signature instability: a strategy illustrated for cardiovascular events in patients with end-stage renal disease
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
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Acute appendicitis: transcript profiling of blood identifies promising biomarkers and potential underlying processes
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Erratum to: RNA sequencing reveals a depletion of collagen targeting microRNAs in Dupuytren’s disease
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Study design and data analysis considerations for the discovery of prognostic molecular biomarkers: a case study of progression free survival in advanced serous ovarian cancer
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Breast cancer subtype predictors revisited: from consensus to concordance?
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Attitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation
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Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing
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Building towards precision medicine: empowering medical professionals for the next revolution
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Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy
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Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study
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Longitudinal genome-wide methylation study of Roux-en-Y gastric bypass patients reveals novel CpG sites associated with essential hypertension
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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
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A microRNA biomarker of hepatocellular carcinoma recurrence following liver transplantation accounting for within-patient heterogeneity
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Saliva DNA quality and genotyping efficiency in a predominantly elderly population
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Case-oriented pathways analysis in pancreatic adenocarcinoma using data from a sleeping beauty transposon mutagenesis screen
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Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma
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Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia
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Efficient and biologically relevant consensus strategy for Parkinson’s disease gene prioritization
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Cancer survival analysis using semi-supervised learning method based on Cox and AFT models with L1/2 regularization
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SOX5 is involved in balanced MITF regulation in human melanoma cells
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Differential gene network analysis for the identification of asthma-associated therapeutic targets in allergen-specific T-helper memory responses
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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
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Gene expression profiling in necrotizing enterocolitis reveals pathways common to those reported in Crohn’s disease
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Integrative analyses of proteomics and RNA transcriptomics implicate mitochondrial processes, protein folding pathways and GWAS loci in Parkinson disease
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A comparison of genomic profiles of complex diseases under different models
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