Abstract:
:With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international stakeholders. Policymakers are assessing the relevance of specific restrictions in national laws and guidelines for better alignment with international approaches. This manuscript will consider key issues in international genome data sharing in South Korea, including consent, privacy, security measures, compatible adequacy and oversight, and map out an approach to genomic data sharing that recognizes the importance of patient engagement and responsible use of data in South Korea.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Kim H,Kim SY,Joly Ydoi
10.1007/s00439-018-1920-1subject
Has Abstractpub_date
2018-08-01 00:00:00pages
627-635issue
8eissn
0340-6717issn
1432-1203pii
10.1007/s00439-018-1920-1journal_volume
137pub_type
杂志文章,评审相关文献
HUMAN GENETICS文献大全abstract::Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. S...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1269-0
更新日期:2005-05-01 00:00:00
abstract::We have used the human-sperm/hamster-egg system to compare the frequencies of structural and numerical chromosomal aberrations in 909 sperm karyotypes from four normal healthy men. The frequency of structural aberrations was 1.3, 4.8, 9.0, and 10.4% respectively in the four donors. Certain specific breakpoints were se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286600
更新日期:1984-01-01 00:00:00
abstract::Human height is a complex trait regulated by multiple genetic and environmental factors. CYP19 (cytochrome P450 19) encodes aromatase, which catalyses the rate-limiting step in the conversion of androgens to estrogens. Deleterious mutations in CYP19 can result in estrogen deficiency that will influence adult height to...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0199-9
更新日期:2006-08-01 00:00:00
abstract::Congenital heart disease (CHD) affects over 40% of Down syndrome (DS) patients. The region proposed to contain the gene(s) for DS CHD has been restricted to 21q22.2-22.3, from D21S55 to MX1. The identification and functional characterization of the genes mapping to this region is a necessary step to understand the pat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050693
更新日期:1998-03-01 00:00:00
abstract::Seven nucleotide sequence polymorphisms were detected within exons of the low-density lipoprotein (LDL) receptor gene using single-strand conformation polymorphism (SSCP) analysis followed by direct sequence analysis on amplified DNA. Four nucleotide changes at nucleotide positions 1617, 1725, 2232, and 2635 were new ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216148
更新日期:1993-08-01 00:00:00
abstract::Southern African Bantu-speaking negroid and San populations were examined with regard to the glucose-6-phosphate dehydrogenase (G6PD) PvuII restriction fragment length polymorphism (RFLP) showing alleles of 4 kb and 1.6 kb, called Type 1 and Type 2, respectively. The standardized disequilibrium coefficient for the ele...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207056
更新日期:1992-04-01 00:00:00
abstract::Newborn hearing screening is not designed to detect delayed-onset prelingual hearing loss or aminoglycoside-antibiotic-induced ototoxicity. Cases with severe to profound hearing loss have been reported to have been missed by newborn hearing screens. The aim of this study was to evaluate the efficacy of concurrent hear...
journal_title:Human genetics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00439-020-02118-6
更新日期:2020-04-01 00:00:00
abstract::The most commonly accepted view about the origin of aneuploidy is that it is due to errors in meiotic division. However, its rare occurrence makes it difficult to explain recurrent births of trisomic children to some parents. This problem causes more serious concern when one accepts that an abnormal (n + 1 or n - 1) s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286609
更新日期:1984-01-01 00:00:00
abstract::This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272192
更新日期:1978-02-16 00:00:00
abstract::In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00327126
更新日期:1983-01-01 00:00:00
abstract::Using "new" techniques (malic acid thin layer agarose gel electrophoresis and/or isoelectric focusing), the polymorphism of the human red cell isozyme system esterase D (ESD) was shown to be extended. We report the gene frequencies observed among 312 unrelated Caucasian individuals living in the Düsseldorf area. The f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292672
更新日期:1986-05-01 00:00:00
abstract::We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050306
更新日期:1997-01-01 00:00:00
abstract::Despite the identification of an increasing number of genes involved in sex determination and differentiation, no cause can be attributed to most cases of 46, XY gonadal dysgenesis, approximately 20% of 46, XX males and the majority of subjects with 46, XX true hermaphroditism. Perhaps the most interesting candidate f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000428
更新日期:2000-12-01 00:00:00
abstract::The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin g...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00211021
更新日期:1994-11-01 00:00:00
abstract::This paper gives the results of studies on the effects of malathion on human lymphocytes stimulated by PHA, including cell survival, chromosomal aberration and nucleic acid content. Increasing malathion doses (10-70 micrograms/ml) were introduced into cultures of human lymphotyes at different times relative to the tim...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00287059
更新日期:1980-01-01 00:00:00
abstract::High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; howev...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050501
更新日期:1997-08-01 00:00:00
abstract::Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene. The ATM gene spans more than 150 kb at chromosomal region 11q23.1 and encodes a product of 3,056 amino acids. The ATM protein is a serine/threonine protein kinase and is involved in oxidative stress, cell cycle control,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-005-1254-7
更新日期:2005-07-01 00:00:00
abstract::Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retarda...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1326-z
更新日期:2013-11-01 00:00:00
abstract::The decade since the publication of the Human Genome Project draft has ended with the discovery of hundreds of genomic markers related to diseases and phenotypes. However, the project has not yet delivered on its promise to tailor treatments for individuals. The number of genomic markers in clinical practice is very s...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-0986-9
更新日期:2011-07-01 00:00:00
abstract::Ninety-six alleles (36 alleles of Japanese and 60 of Caucasian origin) from forty-eight patients with mucopolysaccharidosis IVA were investigated for structural gene alterations using Southern blot analysis. All patients had a previously demonstrated deficiency of N-acetyl-galactosamine-6-sulfate-sulfatase and exhibit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00208958
更新日期:1995-04-01 00:00:00
abstract::A cytogenetic follow-up has been made of nine mixoploid children found among 11 148 consecutive newborn children. The frequency of the cell line with normal chromosomes increased in all but two, and the increase was statistically significant, being from 20% to 39% in four cases, and from 1% to 17% in three, while in o...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00290218
更新日期:1980-01-01 00:00:00
abstract::DNA haplotype constellations of the beta-globin gene cluster have been analyzed in German families with hemoglobinopathies (Hb Freiburg, Hb Köln, Hb Presbyterian) and beta-thalassemias. The polymorphic patterns obtained were compared to those found in families from Greece, Italy, and Turkey affected by beta-thalassemi...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284577
更新日期:1985-01-01 00:00:00
abstract::A case of ring chromosome 15 passed on to the index patient's two children is reported, and possible reasons for the infrequent records of inheritance of ring chromosome are suggested. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283630
更新日期:1987-07-01 00:00:00
abstract::PAX2 is a member of the PAX multigene family encoding transcription factors active in specific tissues during embryogenesis. Several PAX/Pax genes (PAX and Pax describe homologous genes in human and mice, respectively) have been shown to possess critical morphogenetic functions as identified by the analysis of mice ta...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050644
更新日期:1997-12-01 00:00:00
abstract::Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00285035
更新日期:1983-01-01 00:00:00
abstract::High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the wor...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1773-z
更新日期:2017-05-01 00:00:00
abstract::We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp from exon 17B. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00197276
更新日期:1992-01-01 00:00:00
abstract::We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00212025
更新日期:1994-03-01 00:00:00
abstract::The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00702867
更新日期:1988-10-01 00:00:00
abstract::Deficiency in 6-pyruvoyl-tetrahydropterin synthase (PTPS) activity is the major cause of tetrahydrobiopterin (BH4)-deficient phenylketonuria. Two single base alterations of PTPS cDNA, a C-to-T transition at nucleotide 259 and a novel A-to-G transition at nucleotide 155 (according to cDNA sequence), were identified in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050213
更新日期:1996-09-01 00:00:00