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Article

NCAD v1.0: a database for non-coding variant annotation and interpretation.

Journal of genetics and genomics = Yi chuan xue bao - 1 Feb 2024

Feng Xiaoshu, Liu Sihan, Li Ke, Bu Fengxiao, Yuan Huijun

Abstract excerpt

The application of whole genome sequencing is expanding in clinical diagnostics across various genetic disorders, and the significance of non-coding variants in penetrant diseases is increasingly being demonstrated. Therefore, it is urgent to improve the diagnostic yield by exploring the pathogenic mechanisms of variants in non-coding regions. However, the interpretation of non-coding variants remains a...

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PMID: 38142743
DOI: 10.1016/j.jgg.2023.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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