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The study of human metaphase chromosomes is an important aspect in clinical diagnosis of genetic disorders. Although many image processing techniques have been developed for chromosomal karyotyping to assist in laboratory diagnosis, they fail to provide reliable results in segmenting and extracting the centerline of chromosomes due to their shape(More)
BACKGROUND We present Delila-genome, a software system for identification, visualization and analysis of protein binding sites in complete genome sequences. Binding sites are predicted by scanning genomic sequences with information theory-based (or user-defined) weight matrices. Matrices are refined by adding experimentally-defined binding sites to(More)
With the increasing use of Fluorescence In Situ Hybridization (FISH) probes as markers for certain genetic sequences, the requirement of a proper image processing framework is becoming a necessity to accurately detect these probe signal locations in relation to the centerline of the chromosome. Although many image processing techniques have been developed(More)
Due to the rapidly increasing amount of biomedical literature , automatic processing of biomedical papers is extremely important. Named Entity Recognition (NER) in this type of writing has several difficulties. In this paper we present a system to find phenotype names in biomedical literature. The system is based on Metamap and makes use of the UMLS(More)
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding mutations that alter mRNA splicing in rare and common diseases. We compile and summarize the spectrum of(More)
Many multimeric transcription factors recognize DNA sequence patterns by cooperatively binding to bipartite elements composed of half sites separated by a flexible spacer. We developed a novel bipartite algorithm, bipartite pattern discovery (Bipad), which produces a mathematical model based on information maximization or Shannon's entropy minimization(More)
We developed single copy probes from the draft genome sequence for fluorescence in situ hybridization (scFISH) which precisely delineate chromosome abnormalities at a resolution equivalent to genomic Southern analysis. This study illustrates how scFISH probes detect cryptic and subtle abnormalities and localize the sites of chromosome rearrangements. scFISH(More)
Accurate detection of the human metaphase chromosome centromere is an important step in many chromosome analysis and medical diagnosis algorithms. The centromere location can be utilized to derive information such as the chromosome type, polarity assignment, etc. Methods available in the literature yield unreliable results mainly due to high variability of(More)
Dose from radiation exposure can be estimated from dicentric chromosome (DC) frequencies in metaphase cells of peripheral blood lymphocytes. We automated DC detection by extracting features in Giemsa-stained metaphase chromosome images and classifying objects by machine learning (ML). DC detection involves (i) intensity thresholded segmentation of metaphase(More)
Diagnostic DNA hybridization relies on probes composed of single copy (sc) genomic sequences. Sc sequences in probe design ensure high specificity and avoid cross-hybridization to other regions of the genome, which could lead to ambiguous results that are difficult to interpret. We examine how the distribution and composition of repetitive sequences in the(More)