All Stories

  1. A blood test to determine radiation exposure
  2. Interpreting promoter and splicing related gene variants in BRCA1 and BRCA2
  3. Predicting Response to Platin Chemotherapy Agents with Biochemically-inspired Machine Learning
  4. The clinical significance of occult gynecologic primary tumours in metastatic cancer
  5. The Potential Clinical and Economic Value of Primary Tumour Identification in Metastatic Cancer of Unknown Primary Tumour: A Population-Based Retrospective Matched Cohort Study
  6. Video and lab protocol for determining how to measure biological exposure to radiation
  7. Fast and accurate estimation of radiation exposures
  8. Interpreting promoter and splicing gene variants in inherited breast cancer
  9. Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning
  10. Accurate Cytogenetic Biodosimetry Through Automation Of Dicentric Chromosome Curation And Metaphase Cell Selection
  11. Faculty of 1000 evaluation for Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
  12. Faculty of 1000 evaluation for Molecular profiling reveals biologically discrete subsets and pathways of progression in diffuse glioma.
  13. The Clinical Significance of Occult Gastrointestinal Primary Tumours in Metastatic Cancer: A Population Retrospective Cohort Study
  14. Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning
  15. Proceedings of the third international molecular pathological epidemiology (MPE) meeting
  16. Faculty of 1000 evaluation for Punctuated evolution of prostate cancer genomes.
  17. Discovery and validation of information theory-based transcription factor and cofactor binding site motifs
  18. Prediction of hormone and chemotherapy in breast cancer
  19. Radiation Dose Estimation by Automated Cytogenetic Biodosimetry
  20. Centromere detection of human metaphase chromosome images using a candidate based method
  21. Faculty of 1000 evaluation for Emerging landscape of oncogenic signatures across human cancers.
  22. Faculty of 1000 evaluation for Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin.
  23. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
  24. Cost-effectiveness of using a gene expression profiling test to aid in identifying the primary tumour in patients with cancer of unknown primary
  25. Interpreting genetic variants of uncertain significance in inherited breast and ovarian cancer
  26. Discovery of Primary, Cofactor, and Novel Transcription Factor Binding Site Motifs by Recursive, Thresholded Entropy Minimization
  27. Software that finds chromosome abnormalities caused by radiation exposure
  28. Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known BRCA mutations
  29. Automated Discrimination of Dicentric and Monocentric Chromosomes by Machine Learning-based Image Processing
  30. Centromere Detection of Human Metaphase Chromosome Images using a Candidate Based Method
  31. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
  32. Predicting how people respond to common chemotherapy drugs used to treat breast cancer
  33. Reversing chromatin accessibility differences that distinguish homologous mitotic metaphase chromosomes
  34. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
  35. Identification and survival outcomes of a cohort of patients with cancer of unknown primary in Ontario, Canada
  36. Visual analytics for supporting evidence-based interpretation of molecular cytogenomic findings
  37. Localized, non-random differences in chromatin accessibility between homologous metaphase chromosomes
  38. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
  39. Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer
  40. Abstract 4172: Noncoding mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer
  41. Web-service Available for the Shannon Human Splicing Pipeline for mRNA Splicing Mutation Analysis
  42. Automating dicentric chromosome detection from cytogenetic biodosimetry data
  43. Validation of predicted mRNA splicing mutations using high-throughput transcriptome data
  44. Validation of predicted mRNA splicing mutations using high-throughput transcriptome data
  45. Best Practices for Evaluating Mutation Prediction Methods
  46. Intensity Integrated Laplacian-Based Thickness Measurement for Detecting Human Metaphase Chromosome Centromere Location
  47. Interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences
  48. Prediction of Mutant mRNA Splice Isoforms by Information Theory-Based Exon Definition
  49. Expanding probe repertoire and improving reproducibility in human genomic hybridization
  50. Automated Phenotype-Genotype Table Understanding
  51. Relating Centromeric Topography in Fixed Human Chromosomes to a-Satellite DNA and CENP-B Distribution
  52. Towards large scale automated interpretation of cytogenetic biodosimetry data
  53. Intensity integrated Laplacian algorithm for human metaphase chromosome centromere detection
  54. Structural and genic characterization of stable genomic regions in breast cancer: Relevance to chemotherapy
  55. ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
  56. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants
  57. Nanoscale Imaging of Fish Probe Binding to Metaphase Chromosomes
  58. Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons
  59. Improving Phenotype Name Recognition
  60. An image processing algorithm for accurate extraction of the centerline from human metaphase chromosomes
  61. Usher Syndrome Splicing Variants Evaluated in Nasal Epithelial Cells
  62. Deeper understanding of unclassified intronic variants and ESEs
  63. An Accurate Image Processing Algorithm for Detecting FISH Probe Locations Relative to Chromosome Landmarks on DAPI Stained Metaphase Chromosome Images
  64. Ab initio exon definition using an information theory-based approach
  65. Automated splicing mutation analysis by information theory
  66. Predicting severity of haemophilia A and B splicing mutations by information analysis
  67. Dendrimer FISH detection of single-copy intervals in acute promyelocytic leukemia
  68. Determination of genomic copy number with quantitative microsphere hybridization
  69. Determination of genomic copy number with quantitative microsphere hybridization
  70. Distortion of quantitative genomic and expression hybridization by Cot-1 DNA: mitigation of this effect
  71. Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases
  72. Information theory as a model of genomic sequences
  73. Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans
  74. Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans
  75. Splice-site contribution in alternative splicing ofPLP1 andDM20: molecular studies in oligodendrocytes
  76. Automated splicing mutation analysis by information theory
  77. Bipartite pattern discovery by entropy minimization-based multiple local alignment
  78. Development and Refinement of Pregnane X Receptor (PXR) DNA Binding Site Model Using Information Theory
  79. Hepatic CYP2B6 Expression: Gender and Ethnic Differences and Relationship to CYP2B6 Genotype and CAR (Constitutive Androstane Receptor) Expression
  80. Sequence-Based, in situ detection of chromosomal abnormalities at high resolution
  81. Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations
  82. Sequence-Based Design of Single-Copy Genomic DNA Probes for Fluorescence In Situ Hybridization
  83. Spleißstellenmutationen und Atherosklerose: Mechanismen und Modelle der Prädiktion
  84. Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G
  85. Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene
  86. Reply to letter to the editor by Nicholls??mosaicism in Praeder-Willi syndrome?
  87. Mosaicism in Prader-Willi syndrome
  88. Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G
  89. Splice-Site Mutations in Atherosclerosis Candidate Genes : Relating Individual Information to Phenotype
  90. Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints
  91. Maternal uniparental disomy of chromosome 21 in a normal child
  92. Imprinting-Mutation Mechanisms in Prader-Willi Syndrome
  93. Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153-171.
  94. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum
  95. Full length article
  96. Transmission of mitochondrial DNA heteroplasmy in normal pedigrees
  97. Information analysis of human splice site mutations
  98. Information analysis of human splice site mutations
  99. Relaxation of imprinting in Prader-Willi syndrome
  100. Klinefelter and trisomy X syndromes in patients with Prader‐Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?
  101. Clinical spectrum and molecular diagnosis of Angelman and Prader‐Willi syndrome patients with an imprinting mutation
  102. Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization
  103. Human SP-A locus: allele frequencies and linkage disequilibrium between the two surfactant protein A genes.
  104. Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome
  105. Relationship of sleep abnormalities to patient genotypes in Prader‐Willi syndrome
  106. Loss of Heterozygosity and Microsatellite Instability at the Retinoblastoma Locus in Osteosarcomas
  107. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
  108. Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome
  109. Distinct 15q genotypes in Russell‐Silver and ring 15 syndromes
  110. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
  111. Racial Differences in Allelic Distribution at the Human Pulmonary Surfactant Protein B Gene Locus (SP-B)
  112. Daytime Sleepines and Rem Abrormalities in Prader-Willi Syndrome: Evidence of Generalized Hypoarousal
  113. Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutantColoboma
  114. Visual Display of Sequence Conservation as an Aid to Taxonomic Classification Using PCR Amplification
  115. Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia
  116. Microsatellite–Centromere Mapping in the Zebrafish (Danio rerio)
  117. Development of a directory of genetic probes as a shared institutional resource
  118. Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites
  119. Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns
  120. A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region
  121. A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
  122. High-Fidelity Amplification of Ribosomal Gene Sequences from South American Mummies
  123. A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
  124. Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome
  125. Clinical and molecular analyses of deletion 3p25-pter syndrome
  126. Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect
  127. The Frequency of Uniparental Disomy in Prader-Willi Syndrome
  128. Two-dimensional agarose gel electrophoresis of restriction-digested genomic DNA
  129. Conservation in the 5' region of the long interspersed mouse L1 repeat: implications of comparative sequence analysis
  130. Restriction mapping by preferential ligatlon of adjacent digestion fragments
  131. Hydration in purple membrane as a function of relative humidity
  132. The structure of the dihydrofolate reductase inhibitor 2,4,6-triamino-5-chloroquinazoline
  133. The Structure and Magnetic and Electrical Conductivity Properties of the Charge Transfer Compound 1,1′-Dimethylferrocenium Bis-(Tetracyanoquinodimethane), [(CH3C5H4)2Fe][TCNQ]2