Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

Uncharted Regions of the Human Genome The genome is not akin to a string of fixed length.
Many large segments of DNA may be present or absent—a major contributor to pathogenic …

The sequence of the human genome encodes the genetic instructions for human
physiology, as well as rich information about human evolution. In 2001, the International …

Primate-specific segmental duplications are considered important in human disease and
evolution. The inability to distinguish between allelic and duplication sequence overlap has …

The compact genome of Fugu rubripes has been sequenced to over 95% coverage, and
more than 80% of the assembly is in multigene-sized scaffolds. In this 365-megabase …

Specific short oligonucleotide sequences that enhance pre-mRNA splicing when present in
exons, termed exonic splicing enhancers (ESEs), play important roles in constitutive and …

The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …

Compared with other mammals, the genomes of humans and other primates show an
enrichment of large, interspersed segmental duplications (SDs) with high levels of sequence …

In yeast, telomere position effect (TPE) results in the reversible silencing of genes near
telomeres. Here we demonstrate the presence of TPE in human cells. HeLa clones …

The term 'genomic disorder'refers to a disease that is caused by an alteration of the genome
that results in complete loss, gain or disruption of the structural integrity of a dosage …