All Stories

  1. Radiation exposure determination worldwide using distributed cloud computing
  2. Community transmission of COVID-19 infections between neighboring, persistent hotspots
  3. Radiation exposure determination at large scale using distributed cloud computing
  4. Improving the precision and accuracy of predicting radiation exposure
  5. Differences between access to chromosomes inherited from each parent when cells are dividing
  6. Radiation exposure testing in large populations
  7. Predicting how patients respond to cancer drugs (tyrosine kinase inhibitors)
  8. What makes diseases like COVID19 so severe?
  9. Determining radiation exposures across a geographic region from a small number of individuals
  10. Confirming Predicted Allele-Specific mRNA Splicing
  11. Who will respond to platin chemotherapy?
  12. Automated determination of radiation exposure
  13. Genes that are turned on or off in the same cells are powered by the same switches
  14. A large collection of gene defects that affect maturation of expressed human genes
  15. A blood test to determine radiation exposure
  16. Interpreting promoter and splicing related gene variants in BRCA1 and BRCA2
  17. The Potential Clinical and Economic Value of Primary Tumour Identification in Metastatic Cancer of Unknown Primary Tumour: A Population-Based Retrospective Matched Cohort Study
  18. Video and lab protocol for determining how to measure biological exposure to radiation
  19. Fast and accurate estimation of radiation exposures
  20. Interpreting promoter and splicing gene variants in inherited breast cancer
  21. Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning
  22. Accurate Cytogenetic Biodosimetry Through Automation Of Dicentric Chromosome Curation And Metaphase Cell Selection
  23. Faculty of 1000 evaluation for Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.
  24. Faculty of 1000 evaluation for Molecular profiling reveals biologically discrete subsets and pathways of progression in diffuse glioma.
  25. The Clinical Significance of Occult Gastrointestinal Primary Tumours in Metastatic Cancer: A Population Retrospective Cohort Study
  26. Predicting Outcomes of Hormone and Chemotherapy in the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) Study by Biochemically-inspired Machine Learning
  27. Faculty of 1000 evaluation for Punctuated evolution of prostate cancer genomes.
  28. Discovery and validation of information theory-based transcription factor and cofactor binding site motifs
  29. Prediction of hormone and chemotherapy in breast cancer
  30. Centromere detection of human metaphase chromosome images using a candidate based method
  31. Faculty of 1000 evaluation for Emerging landscape of oncogenic signatures across human cancers.
  32. Faculty of 1000 evaluation for Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin.
  33. Interpreting genetic variants of uncertain significance in inherited breast and ovarian cancer
  34. Discovery of Primary, Cofactor, and Novel Transcription Factor Binding Site Motifs by Recursive, Thresholded Entropy Minimization
  35. Software that finds chromosome abnormalities caused by radiation exposure
  36. Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known BRCA mutations
  37. Automated Discrimination of Dicentric and Monocentric Chromosomes by Machine Learning-based Image Processing
  38. Centromere Detection of Human Metaphase Chromosome Images using a Candidate Based Method
  39. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
  40. Predicting how people respond to common chemotherapy drugs used to treat breast cancer
  41. Identification and survival outcomes of a cohort of patients with cancer of unknown primary in Ontario, Canada
  42. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
  43. Visual analytics for supporting evidence-based interpretation of molecular cytogenomic findings
  44. Localized, non-random differences in chromatin accessibility between homologous metaphase chromosomes
  45. Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
  46. Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer
  47. Abstract 4172: Noncoding mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer
  48. Validation of predicted mRNA splicing mutations using high-throughput transcriptome data
  49. Validation of predicted mRNA splicing mutations using high-throughput transcriptome data
  50. Best Practices for Evaluating Mutation Prediction Methods
  51. Prediction of Mutant mRNA Splice Isoforms by Information Theory-Based Exon Definition
  52. Expanding probe repertoire and improving reproducibility in human genomic hybridization
  53. Automated Phenotype-Genotype Table Understanding
  54. Towards large scale automated interpretation of cytogenetic biodosimetry data
  55. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants
  56. Nanoscale Imaging of Fish Probe Binding to Metaphase Chromosomes
  57. Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons
  58. Improving Phenotype Name Recognition
  59. An image processing algorithm for accurate extraction of the centerline from human metaphase chromosomes
  60. Usher Syndrome Splicing Variants Evaluated in Nasal Epithelial Cells
  61. Deeper understanding of unclassified intronic variants and ESEs
  62. An Accurate Image Processing Algorithm for Detecting FISH Probe Locations Relative to Chromosome Landmarks on DAPI Stained Metaphase Chromosome Images
  63. Ab initio exon definition using an information theory-based approach
  64. Automated splicing mutation analysis by information theory
  65. Dendrimer FISH detection of single-copy intervals in acute promyelocytic leukemia
  66. Determination of genomic copy number with quantitative microsphere hybridization
  67. Determination of genomic copy number with quantitative microsphere hybridization
  68. Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases
  69. Information theory as a model of genomic sequences
  70. Splice-site contribution in alternative splicing ofPLP1 andDM20: molecular studies in oligodendrocytes
  71. Automated splicing mutation analysis by information theory
  72. Development and Refinement of Pregnane X Receptor (PXR) DNA Binding Site Model Using Information Theory
  73. Sequence-Based, in situ detection of chromosomal abnormalities at high resolution
  74. Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations
  75. Sequence-Based Design of Single-Copy Genomic DNA Probes for Fluorescence In Situ Hybridization
  76. Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G
  77. Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene
  78. Reply to letter to the editor by Nicholls??mosaicism in Praeder-Willi syndrome?
  79. Reply to letter to the editor by Nicholls—“mosaicism in Praeder-Willi syndrome”
  80. Redundant designations of BRCA1 intron 11 splicing mutation; c. 4216-2A>G; IVS11-2A>G; L78833, 37698, A>G
  81. Splice-Site Mutations in Atherosclerosis Candidate Genes : Relating Individual Information to Phenotype
  82. Maternal uniparental disomy of chromosome 21 in a normal child
  83. Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153-171.
  84. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum
  85. Information analysis of human splice site mutations
  86. Information analysis of human splice site mutations
  87. Klinefelter and trisomy X syndromes in patients with Prader‐Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?
  88. Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?
  89. Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization
  90. Identification of mosaicism in Prader‐Willi syndrome using fluorescent in situ hybridization
  91. Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome
  92. Relationship of sleep abnormalities to patient genotypes in Prader‐Willi syndrome
  93. Loss of Heterozygosity and Microsatellite Instability at the Retinoblastoma Locus in Osteosarcomas
  94. Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome
  95. Distinct 15q genotypes in Russell‐Silver and ring 15 syndromes
  96. Racial Differences in Allelic Distribution at the Human Pulmonary Surfactant Protein B Gene Locus (SP-B)
  97. Daytime Sleepines and Rem Abrormalities in Prader-Willi Syndrome: Evidence of Generalized Hypoarousal
  98. Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutantColoboma
  99. Visual Display of Sequence Conservation as an Aid to Taxonomic Classification Using PCR Amplification
  100. Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia
  101. Microsatellite–Centromere Mapping in the Zebrafish (Danio rerio)
  102. Development of a directory of genetic probes as a shared institutional resource
  103. Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites
  104. Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns
  105. High-Fidelity Amplification of Ribosomal Gene Sequences from South American Mummies
  106. A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
  107. Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome
  108. Clinical and molecular analyses of deletion 3p25-pter syndrome
  109. Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect
  110. The Frequency of Uniparental Disomy in Prader-Willi Syndrome
  111. Two-dimensional agarose gel electrophoresis of restriction-digested genomic DNA
  112. Study of nucleic acids isolated from ancient remains
  113. Conservation in the 5' region of the long interspersed mouse L1 repeat: implications of comparative sequence analysis
  114. Restriction mapping by preferential ligatlon of adjacent digestion fragments
  115. Hydration in purple membrane as a function of relative humidity
  116. The Structure and Magnetic and Electrical Conductivity Properties of the Charge Transfer Compound 1,1′-Dimethylferrocenium Bis-(Tetracyanoquinodimethane), [(CH3C5H4)2Fe][TCNQ]2