Standard
Benefits of NGS for Genetic Testing of Primary Lymphedema. / Kokh, Natalia V.; Sergeevna, Koksharova Galina; Gridina, Maria и др.
2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings. Institute of Electrical and Electronics Engineers Inc., 2023. стр. 133-136 (2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings).
Результаты исследований: Публикации в книгах, отчётах, сборниках, трудах конференций › статья в сборнике материалов конференции › научная › Рецензирование
Harvard
Kokh, NV, Sergeevna, KG
, Gridina, M, Ivanoshchuk, D
, Fishman, V & Nimaev, V 2023,
Benefits of NGS for Genetic Testing of Primary Lymphedema. в
2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings. 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings, Institute of Electrical and Electronics Engineers Inc., стр. 133-136, 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, Новосибирск, Российская Федерация,
28.09.2023.
https://doi.org/10.1109/CSGB60362.2023.10329858
APA
Kokh, N. V., Sergeevna, K. G.
, Gridina, M., Ivanoshchuk, D.
, Fishman, V., & Nimaev, V. (2023).
Benefits of NGS for Genetic Testing of Primary Lymphedema. в
2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings (стр. 133-136). (2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings). Institute of Electrical and Electronics Engineers Inc..
https://doi.org/10.1109/CSGB60362.2023.10329858
Vancouver
Kokh NV, Sergeevna KG
, Gridina M, Ivanoshchuk D
, Fishman V, Nimaev V.
Benefits of NGS for Genetic Testing of Primary Lymphedema. в 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings. Institute of Electrical and Electronics Engineers Inc. 2023. стр. 133-136. (2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings). doi: 10.1109/CSGB60362.2023.10329858
Author
Kokh, Natalia V. ; Sergeevna, Koksharova Galina
; Gridina, Maria и др. /
Benefits of NGS for Genetic Testing of Primary Lymphedema. 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings. Institute of Electrical and Electronics Engineers Inc., 2023. стр. 133-136 (2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings).
BibTeX
@inproceedings{8f03dd7d2b014678aa3e89553f2a752b,
title = "Benefits of NGS for Genetic Testing of Primary Lymphedema",
abstract = "The primary lymphedema of the extremities is a rare disease. Understanding the spectrum of genes and mutations that most commonly underlie primary lymphedema will lead to improved patient care through the development of new targeted therapies. We performed Whole Exome Next-generation sequencing (NGS) for probands from two families with multiple members affected by primary lymphedema. We have discovered a new mutation in gene HGF that is the etiological factor in primary lymphedema. Nevertheless, further cohort studies are required to better understand the genetic diversity of primary lymphedema.",
keywords = "HGF, Primary lymphedema, new gene, next generation sequening",
author = "Kokh, {Natalia V.} and Sergeevna, {Koksharova Galina} and Maria Gridina and Dinara Ivanoshchuk and Veniamin Fishman and Vadim Nimaev",
note = "The study was carried out at the expense of the state funding of the RICEL—Branch of IC&G SB RAS. {\textcopyright} 2023 IEEE.; 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 ; Conference date: 28-09-2023 Through 29-09-2023",
year = "2023",
doi = "10.1109/CSGB60362.2023.10329858",
language = "English",
isbn = "9798350307979",
series = "2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings",
publisher = "Institute of Electrical and Electronics Engineers Inc.",
pages = "133--136",
booktitle = "2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings",
address = "United States",
}
RIS
TY - GEN
T1 - Benefits of NGS for Genetic Testing of Primary Lymphedema
AU - Kokh, Natalia V.
AU - Sergeevna, Koksharova Galina
AU - Gridina, Maria
AU - Ivanoshchuk, Dinara
AU - Fishman, Veniamin
AU - Nimaev, Vadim
N1 - The study was carried out at the expense of the state funding of the RICEL—Branch of IC&G SB RAS. © 2023 IEEE.
PY - 2023
Y1 - 2023
N2 - The primary lymphedema of the extremities is a rare disease. Understanding the spectrum of genes and mutations that most commonly underlie primary lymphedema will lead to improved patient care through the development of new targeted therapies. We performed Whole Exome Next-generation sequencing (NGS) for probands from two families with multiple members affected by primary lymphedema. We have discovered a new mutation in gene HGF that is the etiological factor in primary lymphedema. Nevertheless, further cohort studies are required to better understand the genetic diversity of primary lymphedema.
AB - The primary lymphedema of the extremities is a rare disease. Understanding the spectrum of genes and mutations that most commonly underlie primary lymphedema will lead to improved patient care through the development of new targeted therapies. We performed Whole Exome Next-generation sequencing (NGS) for probands from two families with multiple members affected by primary lymphedema. We have discovered a new mutation in gene HGF that is the etiological factor in primary lymphedema. Nevertheless, further cohort studies are required to better understand the genetic diversity of primary lymphedema.
KW - HGF
KW - Primary lymphedema
KW - new gene
KW - next generation sequening
UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85180377009&origin=inward&txGid=35a0cdd02c8713aacdb9b14b315e2220
UR - https://www.mendeley.com/catalogue/71416d8b-2e69-3e9d-b147-88e5041ab457/
U2 - 10.1109/CSGB60362.2023.10329858
DO - 10.1109/CSGB60362.2023.10329858
M3 - Conference contribution
SN - 9798350307979
T3 - 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings
SP - 133
EP - 136
BT - 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine, CSGB 2023 - Proceedings
PB - Institute of Electrical and Electronics Engineers Inc.
T2 - 2023 IEEE Ural-Siberian Conference on Computational Technologies in Cognitive Science, Genomics and Biomedicine
Y2 - 28 September 2023 through 29 September 2023
ER -
