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Role of Non-Coding Variants in Brugada Syndrome.
Int J Mol Sci. 2020 Nov 13;21(22):8556. doi: 10.3390/ijms21228556.
Int J Mol Sci. 2020.
PMID: 33202810
Free PMC article.
Review.
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
Pinsach-Abuin ML, Del Olmo B, Pérez-Agustin A, Mates J, Allegue C, Iglesias A, Ma Q, Merkurjev D, Konovalov S, Zhang J, Sheikh F, Telenti A, Brugada J, Brugada R, Gymrek M, di Iulio J, Garcia-Bassets I, Pagans S.
Pinsach-Abuin ML, et al. Among authors: perez agustin a.
Cell Rep Med. 2021 Apr 20;2(4):100250. doi: 10.1016/j.xcrm.2021.100250. eCollection 2021 Apr 20.
Cell Rep Med. 2021.
PMID: 33948580
Free PMC article.
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Targeted phasing of 2-200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method.
Mikhaylova V, Rzepka M, Kawamura T, Xia Y, Chang PL, Zhou S, Paasch A, Pham L, Modi N, Yao L, Perez-Agustin A, Pagans S, Boles TC, Lei M, Wang Y, Garcia-Bassets I, Chen Z.
Mikhaylova V, et al. Among authors: perez agustin a.
Sci Rep. 2024 Apr 5;14(1):7988. doi: 10.1038/s41598-024-58733-0.
Sci Rep. 2024.
PMID: 38580715
Free PMC article.
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Targeted Phasing of 2-200 Kilobase DNA Fragments with a Short-Read Sequencer and a Single-Tube Linked-Read Library Method.
Mikhaylova V, Rzepka M, Kawamura T, Xia Y, Chang PL, Zhou S, Pham L, Modi N, Yao L, Perez-Agustin A, Pagans S, Boles TC, Lei M, Wang Y, Garcia-Bassets I, Chen Z.
Mikhaylova V, et al. Among authors: perez agustin a.
bioRxiv [Preprint]. 2023 Mar 6:2023.03.05.531179. doi: 10.1101/2023.03.05.531179.
bioRxiv. 2023.
PMID: 36945366
Free PMC article.
Updated.
Preprint.
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