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Is Gauchian genotyping of GBA1 variants reliable?

作者信息

Tayebi Nahid, Lichtenberg Jens, Hertz Ellen, Sidransky Ellen

机构信息

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.

出版信息

Commun Biol. 2025 May 9;8(1):718. doi: 10.1038/s42003-025-08059-y.

DOI:10.1038/s42003-025-08059-y
PMID:40346301
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12064688/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b361/12064688/69832a4110b8/42003_2025_8059_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b361/12064688/69832a4110b8/42003_2025_8059_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b361/12064688/69832a4110b8/42003_2025_8059_Fig1_HTML.jpg

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1
Is Gauchian genotyping of GBA1 variants reliable?GBA1基因变异的戈谢病基因分型是否可靠？
Commun Biol. 2025 May 9;8(1):718. doi: 10.1038/s42003-025-08059-y.
2
Is Gauchian genotyping of variants reliable?戈谢病变异的基因分型是否可靠？
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Reply to: Is Gauchian genotyping of GBA1 variants reliable?回复：GBA1基因变异的高雪氏病基因分型是否可靠？
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引用本文的文献

1
Reply to: Is Gauchian genotyping of GBA1 variants reliable?回复：GBA1基因变异的高雪氏病基因分型是否可靠？
Commun Biol. 2025 May 9;8(1):719. doi: 10.1038/s42003-025-08060-5.

本文引用的文献

1
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.基于全面序列分析的 GBA1 变异与 MSA 的关联研究-基于人类参考基因组的短读序列分析的陷阱。
J Hum Genet. 2024 Dec;69(12):613-621. doi: 10.1038/s10038-024-01266-1. Epub 2024 Jul 18.
2
Genetic variations in and genes: Biochemical and clinical consequences in Parkinson disease.基因和基因的遗传变异：帕金森病的生化及临床后果
Front Neurol. 2022 Aug 12;13:971252. doi: 10.3389/fneur.2022.971252. eCollection 2022.
3
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.
全面的短读和长读测序分析用于戈谢病和帕金森病相关的 GBA 基因。
Commun Biol. 2022 Jul 6;5(1):670. doi: 10.1038/s42003-022-03610-7.
4
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.戈谢氏病患者的筛查、患者识别、评估和治疗：德尔菲共识的结果。
Mol Genet Metab. 2022 Feb;135(2):154-162. doi: 10.1016/j.ymgme.2021.12.009. Epub 2021 Dec 22.
5
Next-Generation Sequencing Analysis of : The Challenge of Detecting Complex Recombinant Alleles.下一代测序分析：检测复杂重组等位基因的挑战
Front Genet. 2021 Jun 21;12:684067. doi: 10.3389/fgene.2021.684067. eCollection 2021.
6
A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.一种通过下一代测序进行复杂变体检测和相位分析的定制支架方法。
Sci Rep. 2020 Sep 14;10(1):15060. doi: 10.1038/s41598-020-71471-3.
7
Similarities and differences between variants called with human reference genome HG19 or HG38.与使用人类参考基因组 HG19 或 HG38 调用的变体之间的相似性和差异。
BMC Bioinformatics. 2019 Mar 14;20(Suppl 2):101. doi: 10.1186/s12859-019-2620-0.
8
GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.下一代测序时代的GBA分析：陷阱、挑战及可能的解决方案
J Mol Diagn. 2017 Sep;19(5):733-741. doi: 10.1016/j.jmoldx.2017.05.005. Epub 2017 Jul 18.
9
A global reference for human genetic variation.人类遗传变异的全球参考。
Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.
10
Detecting non-allelic homologous recombination from high-throughput sequencing data.从高通量测序数据中检测非等位基因同源重组
Genome Biol. 2015 Apr 8;16(1):72. doi: 10.1186/s13059-015-0633-1.