Authors' Reply: Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.
作者信息
Bensouna Ilias, Robert Thomas, Vanhoye Xavier, Mesnard Laurent
机构信息
Soins Intensifs Néphrologiques et Rein Aigu (SINRA), Nephrology Department, Tenon Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.
Inserm UMR_S1155, Paris, France.
出版信息
J Am Soc Nephrol. 2025 Feb 1;36(2):329-330. doi: 10.1681/ASN.0000000575. Epub 2024 Dec 9.
Abstract
摘要
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本文引用的文献
1
Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.利用全外显子组测序数据中的VNtyper检测MUC1基因中的致病变异。
J Am Soc Nephrol. 2025 Feb 1;36(2):327-328. doi: 10.1681/ASN.0000000574. Epub 2024 Dec 9.
2
Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing.通过外显子组测序对常染色体显性遗传性肾小管间质性肾病-MUC1 27dupC致病变异进行系统筛查。
J Am Soc Nephrol. 2025 Feb 1;36(2):256-263. doi: 10.1681/ASN.0000000503. Epub 2024 Sep 26.
3
VNtyper enables accurate alignment-free genotyping of coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.VNtyper能够利用常染色体显性遗传性肾小管间质性肾病的短读长测序数据，对编码可变数目串联重复序列（VNTR）进行准确的无比对基因分型。
iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. eCollection 2023 Jul 21.
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A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data.分析和解读全外显子组测序数据的计算工具综述
Int J Genomics. 2016;2016:7983236. doi: 10.1155/2016/7983236. Epub 2016 Dec 14.
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Efficient storage of high throughput DNA sequencing data using reference-based compression.利用基于参考的压缩技术高效存储高通量 DNA 测序数据。
Genome Res. 2011 May;21(5):734-40. doi: 10.1101/gr.114819.110. Epub 2011 Jan 18.
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