We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in related studies, we built a database, cataloging the CNVs and related information. This system helps researchers browsing these variants with gene and structure variant annotations. Users can easily find specific regions with search options and verify them from system-integrated genome browsers with annotations.
Asian Continental Ancestry Group ; Cataloging ; Coat Protein Complex I ; Genome ; Humans

Closely related species share large genomic segments called syntenic regions, where the genomic elements such as genes are arranged co-linearly among the species. While synteny is an important criteria in establishing orthologous regions between species, non-syntenic regions may display species-specific features. As the first step in cataloging human- or primate-specific genomic elements, we surveyed human genomic regions that are not syntenic with any other non-primate mammalian genomes sequenced so far. Based on the data compiled in Ensembl databases, we were able to identify 10 such regions located in eight different human chromosomes. Interestingly, most of these highly human- or primate-specific loci are concentrated in subtelomeric or pericentromeric regions. It has been reported that subtelomeric regions in human chromosomes are highly plastic and filled with recently shuffled genomic elements. Pericentromeric regions also show a great deal of segmental duplications. Such genomic rearrangements may have caused these large human- or primate-specific genome segments.
Cataloging ; Chromosomes, Human ; Genome ; Genome, Human ; Humans ; Plastics ; Resin Cements ; Segmental Duplications, Genomic ; Synteny

The first half of this article deals with the concept of informed consent. There are three important elements in practice. First, the consent must be specific as to the proposed intervention. Second, sufficient information must be provided so that a patient can fully understand the matter. For the criterion of sufficiency, this article proposes what might be called as 'the hypothetical self-test' with which physicians can self-evaluate the sufficiency of the information that they provide to the patient. Third, the consent must be given in a fashion to meet the patients' intellectual capabilities. In case the patient is not intellectual enough incapable, the consent, which is still required, can be obtained from a substitute decision maker. This article also suggests patients to prepare advanced directives when they are still competent, so as to avoid having their family members be left with moral quandaries of making the life with moral quandaries of making the life-and-death decision. The second half of this article deals with medical confidentiality. Why should a physician keep the medical record confidential? First, if the physician fails to keep medical confidentiality, hardly can trust be built between physicians and patients. Second, once the trust breaks down, physicians would face difficulties in taking the patients' medical histories, which are crucial to the diagnosis of the patient, because the patients obviously are reluctant to give information in that setting. Third, each individual should have control over information about him/herself. This article concludes with cataloging seven circumstances in which medical confidentiality is excused. (237 words).
Cataloging ; Confidentiality* ; Diagnosis ; Humans ; Informed Consent* ; Medical Records