During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

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 …

Whole-genome duplication (WGD) is believed to be a significant source of major
evolutionary innovation. Redundant genes resulting from WGD are thought to be lost or …

Purpose: Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked
mental retardation disorder in females. Mutations also cause variable neurodevelopmental …

Orofacial clefts are common birth defects of multifactorial etiology. Several novel approaches
have recently been applied to investigate the causes of clefts. These include examining …

Hemiascomycetous yeasts have the greatest number of sequenced species for a single
phylum, and are at the forefront of evolutionary genomics of eukaryotes. Yeast genomes …

Copy number variants (CNVs) are widely distributed throughout the human genome, where
they contribute to genetic variation and phenotypic diversity. De novo CNVs are also a major …

Copy number variants (CNVs) are an important component of genomic variation in humans
and other mammals. Similar de novo deletions and duplications, or copy number changes …

Background: Syndromic hearing loss that results from contiguous gene deletions is
uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene …

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