Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.
作者信息
Saei Hassan, Masson Cécile, Morinière Vincent, Kachmar Jessica, Heidet Laurence, Gribouval Olivier, Antignac Corinne, Dorval Guillaume
机构信息
Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.
Bioinformatics Platform, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.
出版信息
J Am Soc Nephrol. 2025 Feb 1;36(2):327-328. doi: 10.1681/ASN.0000000574. Epub 2024 Dec 9.
Abstract
摘要
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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。
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引用本文的文献
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Authors' Reply: Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.作者回复：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):329-330. doi: 10.1681/ASN.0000000575. Epub 2024 Dec 9.
本文引用的文献
1
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.
2
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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