Re: "A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review".

IF 4.1 3区医学 Q2 GENETICS & HEREDITY

Human Genomics Pub Date : 2026-05-21 DOI:10.1186/s40246-026-00990-3

Raymond Dalgleish

引用次数: 0

Abstract

A paper entitled "A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review" was recently published in this journal. Unfortunately, it contains a number of errors that the authors should correct. The most serious errors are incorrect sequence variant descriptions and inappropriate use of AI-assisted protein structure prediction.

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回复：“COL1A1基因中一个新的剪接改变移码变异导致I型成骨不全：中国四代家系的分子特征和文献综述”。

最近，一篇题为“COL1A1基因中一个新的剪接改变移码变异导致I型成骨不全：中国四代家系的分子特征和文献综述”的论文发表在该杂志上。不幸的是，它包含了一些作者应该纠正的错误。最严重的错误是不正确的序列变异描述和不恰当地使用人工智能辅助的蛋白质结构预测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.