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Search Results to Michael Brudno

This is a "connection" page, showing the details of why an item matched the keywords from your search.


One or more keywords matched the following items that are connected to Brudno, Michael

Item TypeName
Concept Translational Medical Research
Concept Longitudinal Studies
Concept Estradiol
Concept Prenatal Diagnosis
Concept Gene Expression Profiling
Concept Maternal Serum Screening Tests
Concept Diagnosis, Differential
Concept Specimen Handling
Concept Epithelial Cells
Concept Disease Models, Animal
Concept Precision Medicine
Concept Electronic Health Records
Concept Diagnosis, Computer-Assisted
Concept Prognosis
Concept Sequence Analysis, DNA
Concept Patient Selection
Concept Datasets as Topic
Concept Genetic Association Studies
Concept Sequence Analysis, RNA
Concept Epigenomics
Concept High-Throughput Screening Assays
Concept Escherichia coli
Concept Electronic Mail
Concept Gene Expression Regulation, Fungal
Concept Magnetic Resonance Imaging
Concept DNA Shuffling
Concept Gene Expression
Concept Protein Interaction Mapping
Concept Public Health
Concept Genetic Testing
Concept Feasibility Studies
Concept Physical Examination
Concept Statistics as Topic
Concept Amino Acid Substitution
Concept National Institutes of Health (U.S.)
Concept Proton Magnetic Resonance Spectroscopy
Concept Physical Chromosome Mapping
Concept Plant Extracts
Concept Alu Elements
Concept Epigenesis, Genetic
Concept Survival Analysis
Concept Cluster Analysis
Concept Contig Mapping
Concept Models, Animal
Concept Models, Genetic
Concept Epidemiology
Concept Sequence Alignment
Concept Health Services Research
Concept Program Evaluation
Concept Reproductive Techniques, Assisted
Concept Sensitivity and Specificity
Concept Cohort Studies
Concept Sperm Injections, Intracytoplasmic
Concept Medical History Taking
Concept High-Throughput Nucleotide Sequencing
Concept Case-Control Studies
Concept Gene Expression Regulation, Neoplastic
Concept Predictive Value of Tests
Concept Reproducibility of Results
Concept Prospective Studies
Concept Chromosome Mapping
Concept Genome-Wide Association Study
Concept Immunization
Concept Models, Molecular
Concept Oligonucleotide Array Sequence Analysis
Concept Exome
Concept Biopsy
Concept Receptors, Estrogen
Concept Biological Evolution
Concept DNA Transposable Elements
Concept Exons
Concept Mutagenesis, Insertional
Concept Health Policy
Concept Gene Expression Regulation
Concept Ovulation Induction
Concept Models, Statistical
Concept Evolution, Molecular
Concept Drug Evaluation, Preclinical
Concept Encephalocele
Concept Principal Component Analysis
Concept Polymerase Chain Reaction
Concept Excitation Contraction Coupling
Concept Fertilization in Vitro
Concept DNA Mutational Analysis
Concept Sequence Analysis
Concept Facies
Concept Severity of Illness Index
Academic Article iReckon: simultaneous isoform discovery and abundance estimation from RNA-seq data.
Academic Article Identification of deleterious synonymous variants in human genomes.
Academic Article NSD1 mutations generate a genome-wide DNA methylation signature.
Academic Article Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics.
Academic Article Erratum: Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics.
Academic Article Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction.
Academic Article An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.
Academic Article Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid Tumors.
Academic Article CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Academic Article Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Academic Article Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Academic Article A novel strain of cynomolgus macaque cytomegalovirus: implications for host-virus co-evolution.
Academic Article The missing indels: an estimate of indel variation in a human genome and analysis of factors that impede detection.
Academic Article Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Academic Article Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.
Academic Article Tamoxifen therapy in a murine model of myotubular myopathy.
Academic Article Don't brush off buccal data heterogeneity.
Academic Article Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Academic Article Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Academic Article Extract and component-specific sensitization patterns in Canadian moderate-to-severe preschool asthmatics.
Academic Article New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article SCARPA: scaffolding reads with practical algorithms.
Academic Article Extreme genomic variation in a natural population.
Academic Article Extensive parallelism in protein evolution.
Academic Article Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Academic Article Automated whole-genome multiple alignment of rat, mouse, and human.
Academic Article The Human Phenotype Ontology in 2017.
Academic Article Comparative genomics of transcriptional regulation in yeasts and its application to identification of a candidate alpha-isopropylmalate transporter.
Academic Article The Matchmaker Exchange: a platform for rare disease gene discovery.
Academic Article Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Academic Article AGenDA: homology-based gene prediction.
Academic Article Characterization of evolutionary rates and constraints in three Mammalian genomes.
Academic Article The genomic birthday paradox: how much is enough?
Academic Article The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Academic Article Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning.
Academic Article Harmonising phenomics information for a better interoperability in the rare disease field.
Academic Article Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.
Academic Article Conservation of core gene expression in vertebrate tissues.
Academic Article Active conservation of noncoding sequences revealed by three-way species comparisons.
Academic Article VISTA : visualizing global DNA sequence alignments of arbitrary length.
Academic Article Phylo-VISTA: interactive visualization of multiple DNA sequence alignments.
Academic Article Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Academic Article Quantitative estimates of sequence divergence for comparative analyses of mammalian genomes.
Academic Article SHRiMP: accurate mapping of short color-space reads.
Academic Article Savant Genome Browser 2: visualization and analysis for population-scale genomics.
Academic Article Maximum likelihood genome assembly.
Academic Article Glocal alignment: finding rearrangements during alignment.
Academic Article The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Academic Article The genetic landscape of a cell.
Academic Article Polymorphism due to multiple amino acid substitutions at a codon site within Ciona savignyi.
Academic Article deBGA: read alignment with de Bruijn graph-based seed and extension.
Academic Article Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing.
Academic Article Registered access: authorizing data access.
Academic Article Assembly and characterization of novel Alu inserts detected from next-generation sequencing data.
Academic Article Consent Codes: Upholding Standard Data Use Conditions.
Academic Article Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Academic Article Multiple whole-genome alignments without a reference organism.
Academic Article Phenotyping: targeting genotype's rich cousin for diagnosis.
Academic Article MoDIL: detecting small indels from clone-end sequencing with mixtures of distributions.
Academic Article Alignathon: a competitive assessment of whole-genome alignment methods.
Academic Article "Matching" consent to purpose: The example of the Matchmaker Exchange.
Academic Article Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Academic Article Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.
Academic Article PhenoBlocks: Phenotype Comparison Visualizations.
Academic Article LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA.
Academic Article Detecting Alu insertions from high-throughput sequencing data.
Academic Article International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Academic Article DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
Academic Article Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Academic Article Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas.
Academic Article Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
Academic Article Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1.
Academic Article Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Academic Article DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Academic Article Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Academic Article CReSCENT: CanceR Single Cell ExpressioN Toolkit.
Academic Article Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Academic Article EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.

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