一致性
新生儿筛查
计算生物学
先天性代谢错误
表型
分子诊断学
生物信息学
医学
计算机科学
遗传学
生物
基因
内科学
作者
May Flowers,Alexa Dickson,Marcus J. Miller,Elaine Spector,Gregory M. Enns,Heather Baudet,Marzia Pasquali,Lemuel Racacho,Kianoush Sadre-Bazzaz,Ting Wen,Melissa Fogarty,Raquel Fernández,Meredith Weaver,Annette Feigenbaum,Brett H. Graham,Rong Mao
标识
DOI:10.1016/j.ymgme.2023.107668
摘要
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is a relatively common inborn error of metabolism, but due to difficulty in accurately predicting affected status through newborn screening, molecular confirmation of the causative variants by sequencing of the ACADVL gene is necessary. Although the ACMG/AMP guidelines have helped standardize variant classification, ACADVL variant classification remains disparate due to a phenotype that can be nonspecific, the possibility of variants that produce late-onset disease, and relatively high carrier frequency, amongst other challenges. Therefore, an ACADVL-specific variant curation expert panel (VCEP) was created to facilitate the specification of the ACMG/AMP guidelines for VLCADD. We expect these guidelines to help streamline, increase concordance, and expedite the classification of ACADVL variants.
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