Our sequence-tagged site-content map of chromosome 12 is now integrated with the whole-genome fingerprinting effort. It provides accurate and nearly complete bacterial clone coverage of chromosome 12. We propose that this integrated mapping protocol serves as a model for constructing physical maps for entire genomes.
MOTIVATION A nucleosome DNA positioning pattern is known to be one of the weakest (highly degenerated) patterns. The alignment procedure that has been developed recently for the extraction of such a pattern is based on a statistical matching of the sequences, and its success depends on the pattern/background ratio in the individual sequences and in the… (More)
BACKGROUND Restriction landmark genomic scanning (RLGS) is one of the most successfully applied methods for the identification of aberrant CpG island hypermethylation in cancer, as well as the identification of tissue specific methylation of CpG islands. However, a limitation to the utility of this method has been the ability to assign specific genomic… (More)
Rare diseases are not that rare: worldwide, one in 12-17 people will be affected by a rare disease. Newborn screening for rare diseases has been adopted by many European and North American jurisdictions. The results of genetic testing are given to millions of families and children's guardians who often turn to the In-ternet to find more information about… (More)
ii Preface Biomedical NLP deals with the processing of healthcare-related text—clinical documents created by physicians and other healthcare providers at the point of care, scientific publications in the areas of biology and medicine, and consumer healthcare text such as social media blogs. Recent years have seen dramatic changes in the types and amount of… (More)