All Stories

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