Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Seong-Hyeuk Nam"'
Autor:
Yeeok Kang, Seong-Hyeuk Nam, Kyung Sun Park, Yoonjung Kim, Jong-Won Kim, Eunjung Lee, Jung Min Ko, Kyung-A Lee, Inho Park
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Targeted next-generation sequencing (NGS) is increasingly being adopted in clinical laboratories for genomic diagnostic tests. Results We developed a new computational method, DeviCNV, intended for the detection of exon-level copy
Externí odkaz:
https://doaj.org/article/f057b4c3dbf4413e98c9ae595a0839d5
Autor:
Yoonjung Kim, Joowon Oh, Kyung Sun Park, Boyeon Kim, Kyung A. Lee, Seong-Hyeuk Nam, Yu Ri Kim
Publikováno v:
Journal of Cancer
Background: As the number of long-term survivors of solid cancers keeps increasing, risk assessment of secondary hematologic malignancies is important for the prognosis of the patient. Germline genetic predisposition to secondary hematologic malignan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::877140760574f87abbc1bc48cf636508
https://doi.org/10.7150/jca.54169
https://doi.org/10.7150/jca.54169
Publikováno v:
Clinical chemistry. 66(6)
Background Because next-generation sequencing (NGS) for detecting somatic mutations has been adopted in clinical fields, both qualitative and quantitative QC of the somatic variants through whole coding regions detected by NGS is crucial. However, sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffc57b8f3fbbbc840c687a0a70ea4ef
https://pubmed.ncbi.nlm.nih.gov/32395759
https://pubmed.ncbi.nlm.nih.gov/32395759
Autor:
Jong-Won Kim, Jung Min Ko, Inho Park, Kyung A. Lee, Eunjung Lee, Yoonjung Kim, Kyung Sun Park, Yeeok Kang, Seong Hyeuk Nam
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-13 (2018)
BMC Bioinformatics
BMC Bioinformatics
Background Targeted next-generation sequencing (NGS) is increasingly being adopted in clinical laboratories for genomic diagnostic tests. Results We developed a new computational method, DeviCNV, intended for the detection of exon-level copy number v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac8926b1f15e6987627b877c0e3ebb1
http://link.springer.com/article/10.1186/s12859-018-2409-6
http://link.springer.com/article/10.1186/s12859-018-2409-6
Autor:
Kyung Sun Park, Kyung A. Lee, Yoonjung Kim, Jung Min Ko, Soon Min Lee, Inho Park, Hyun Wook Chae, Seong Hyeuk Nam, Yeeok Kang, Jong-Won Kim
Publikováno v:
Yonsei Medical Journal
Purpose We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb5bb76895cffb29c802531450a74b06
http://europepmc.org/articles/PMC5990675
http://europepmc.org/articles/PMC5990675
Autor:
Yeeok Kang, Seong-Hyeuk Nam, Park, Kyung, Yoonjung Kim, Kim, Jong-Won, Eunjung Lee, Ko, Jung, Kyung-A Lee, Inho Park
Note S1. Performance comparison based on the mean target depth for a sample. Note S2. Performance evaluation of DeviCNV by qPCR. Note S3. Performance comparison to VisCap, XHMM, and CODEX. Note S4. Sample collection description of for the inherited m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::839e1ffaf4dbc881ecd4b4e7bd29c59b
Autor:
Byoung Joon Kim, Cheol-Hee Kim, Sung-A Chang, Mi-Ae Jang, Joo-Heung Lee, Seong-Hyeuk Nam, Nhung Thi-Cam Nguyen, Joo-Yeon Yoo, Hesung Now, Changwon Kee, Ok Hwa Kim, Duk-Kyung Kim, Jinhyuk Lee, So Young Lim, Yun-Mi Jeong, Yoojin Hong, Yong-seok Lee, Shin Yi Jang, Eun Kyoung Kim, Chang-Seok Ki, Myung-Shik Lee, Ki-Sun Sung, Woo-Jong Kim, Ki-Tae Park, Jong-Won Kim, Seongsoo Sohn
Publikováno v:
The American Journal of Human Genetics. 96(2):266-274
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::089b39ef49de29a96fef1929db5af531
Publikováno v:
Clinical Chemistry; Jun2020, Vol. 66 Issue 6, p832-841, 10p
Autor:
Dae-Won Kim1,2, Seong-Hyeuk Nam3,4, Ryong Nam Kim3, Sang-Haeng Choi3, Hong-Seog Park3,4 hspark@kribb.re.kr
Publikováno v:
Genome. Jul2010, Vol. 53 Issue 7, p568-574. 6p. 1 Diagram, 1 Chart, 5 Graphs.
Autor:
Ryong Nam Kim, Sang-Haeng Choi, Dae-Soo Kim, Dong-Wook Kim, Min-Young Kim, Aram Kang, Aeri Kim, Seong-Hyeuk Nam, Hong-Seog Park
Publikováno v:
Genomics. 100:14-17
A conjoined gene is defined as one formed at the time of transcription by combining at least part of one exon from each of two or more distinct genes that lie on the same chromosome, in the same or opposite orientation, which translate independently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19eb4a5a9278e0a073bc571c96f9d060
https://doi.org/10.1016/j.ygeno.2012.05.005
https://doi.org/10.1016/j.ygeno.2012.05.005