… This unappreciated variation might be particularly important when we investigate genetic
and genomic variants associated with complex, … Exome sequencing in human diseases …

… Interestingly, these patients with duplications of the SMS region also have a patient-specific
novel junction fragment when PFGE-separated genomic DNA is hybridized with an SMS–…

… of global demethylation of DNA in disease, predominantly in … repeat elements within the
genome and how demethylation … The following is a description of these various repeats in the …

… The importance of DNA methylation is emphasized by the growing number of human diseases
that are known to occur when this epigenetic information is not properly established and/…

… genomes has changed dramatically our perspective on DNA structural variation and disease…
or functional polymorphisms of the remaining allele when a deletion occurs (35). In addition, …

… repeats that cause human diseases are shown, and the associated diseases are listed. BPES,
… This question is particularly intriguing when considering the diseases that are caused by …

… when they are mutated in human genetic disorders, and, as thecomplete sequences of the
genomes … mouse recapitulates atleast certain aspects of the human disease. For example, the …

… When possible, the DNA fragments within the library vectors were mapped to chromosomal
… the human genome sequence will continue to propel our understanding of human disease to …

… genome, transcriptome and methylation profiling studies of mobile elements in human
diseases… protein) occurs only after L1 reverse transcription and insertion of its cDNA copy into the …

… field of human disease genetics, from identifying mostly irreproducible disease associations
in … The focus has also gradually shifted back to Mendelian disorders, with the advent of high-…