Zobrazeno 1 - 10
of 265
pro vyhledávání: '"variome"'
Autor:
Leman Damla Kotan
Publikováno v:
JCRPE, Vol 14, Iss 3, Pp 293-301 (2022)
INTRODUCTION: With the increasing use of whole-exome sequencing, one of the challenges in identifying the causal allele for a Mendelian disease is the lack of availability of population-specific human genetic variation reference databases. The people
Externí odkaz:
https://doaj.org/article/40258c6d62f44aa492e7de8c19b6b187
Autor:
Juan L. García-Hernández, Luis A. Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons, Pedro A. Lazo
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)
Abstract Background Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. Methods To i
Externí odkaz:
https://doaj.org/article/1e7d521c22ca40d9b075d128f52b3343
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of
Externí odkaz:
https://doaj.org/article/ae8cd3bd85444386985e9b82723b79a6
Publikováno v:
BAG. Journal of Basic and Applied Genetics, Vol 30, Iss 2, Pp 41-46 (2019)
The Human Variome Project (HVP) is an international effort aiming systematically to collect and share information on all human genetic variants. It has been working for years in collaboration with local scientific societies by establishing systems to
Externí odkaz:
https://doaj.org/article/7ee2701d5b4a40bbadb9898430b5c98d
Autor:
Nadine Rena Caron, Meck Chongo, Maui Hudson, Laura Arbour, Wyeth W. Wasserman, Stephen Robertson, Solenne Correard, Phillip Wilcox
Publikováno v:
Frontiers in Public Health, Vol 8 (2020)
The potential to grow genomic knowledge and harness the subsequent clinical benefits has escalated the building of background variant databases (BVDs) for genetic diagnosis across the globe. Alongside the upsurge of this precision medicine, potential
Externí odkaz:
https://doaj.org/article/54ea518981ea4ad98caaccfe1a831c9e
Autor:
Gustavo Gámez, Andrés Castro, Alejandro Gómez-Mejia, Mauricio Gallego, Alejandro Bedoya, Mauricio Camargo, Sven Hammerschmidt
Publikováno v:
BMC Genomics, Vol 19, Iss 1, Pp 1-18 (2018)
Abstract Background In recent years, the idea of a highly immunogenic protein-based vaccine to combat Streptococcus pneumoniae and its severe invasive infectious diseases has gained considerable interest. However, the target proteins to be included i
Externí odkaz:
https://doaj.org/article/eeaab871f61e415eb9a71ccd79a42ea0
Akademický článek
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Genetic relationship and pedigree of Chinese watermelon varieties based on diversity of perfect SNPs
Autor:
Luo Jiang, Mao Aijun, Changlong Wen, Jingjing Yang, Zhang Xiaofei, Haiying Zhang, Hushan Du, Zhao Hong, Zhang Jian, Yong Xu
Publikováno v:
Horticultural Plant Journal. 8:489-498
Watermelon (Citrullus lanatus) is one of the world's most important fruit crops, and China produces the most watermelons in the world. Recently, a watermelon variome consisting of 414 key resequenced accessions was reported. However, the genetic rela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6993af099ae4aa770bc102aa0439166c
https://doi.org/10.1016/j.hpj.2021.09.004
https://doi.org/10.1016/j.hpj.2021.09.004
Autor:
Yacong Cao, Kang Zhang, Hailong Yu, Shumin Chen, Donghui Xu, Hong Zhao, Zhenghai Zhang, Yinqing Yang, Xiaozhen Gu, Xinyan Liu, Haiping Wang, Yaxin Jing, Yajie Mei, Xiang Wang, Véronique Lefebvre, Weili Zhang, Yuan Jin, Dongliang An, Risheng Wang, Paul Bosland, Xixiang Li, Ilan Paran, Baoxi Zhang, Giovanni Giuliano, Lihao Wang, Feng Cheng
Publikováno v:
Molecular Plant
Molecular Plant, 2022, 15 (11), pp.1744-1758. ⟨10.1016/j.molp.2022.09.021⟩
Molecular Plant, 2022, 15 (11), pp.1744-1758. ⟨10.1016/j.molp.2022.09.021⟩
International audience; Pepper (Capsicum spp.) is an important vegetable crop that provides a unique pungent sensation when eaten. Through construction of a pepper variome map, we examined the main groups that emerged during domestication and breedin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dde90a692cdfadc3e0793e0a470101d8
https://pubmed.ncbi.nlm.nih.gov/36176193
https://pubmed.ncbi.nlm.nih.gov/36176193
Autor:
Tosin Thompson
Publikováno v:
Frontiers in Public Health
The potential to grow genomic knowledge and harness the subsequent clinical benefits has escalated the building of background variant databases (BVDs) for genetic diagnosis across the globe. Alongside the upsurge of this precision medicine, potential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::811ff54f12b7b5a06f19d6b41eb97a25
https://pubmed.ncbi.nlm.nih.gov/32391301
https://pubmed.ncbi.nlm.nih.gov/32391301