Why do 65% of ASD cases show no detectable genetic variants despite comprehensive analysis?

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Composite

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Novelty

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Mechanistic

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Druggability

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Priority

75%

Importance

90%

Tractability

60%

Market price

50%

Description

The study finds genetic variants in only 35% of cases using state-of-the-art genomic approaches, leaving the majority unexplained. This substantial gap suggests either undetected genetic mechanisms or significant non-genetic factors in ASD etiology.

Gap type: open_question Source paper: Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort. (2025, Neurogenetics, PMID:41420732)

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