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Article

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021

D'haene Eva, Vergult Sarah

Abstract excerpt

The emergence of novel sequencing technologies has greatly improved the identification of structural variation, revealing that a human genome harbors tens of thousands of structural variants (SVs). Since these SVs primarily impact noncoding DNA sequences, the next challenge is one of interpretation, not least to improve our understanding of human disease etiology. However, this task is severely complicated by the...

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Identifiers

PMID: 32973355
DOI: 10.1038/s41436-020-00974-1
PMCID: PMC7790743

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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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