SLPOtherMolecular autism2016

A systematic variant annotation approach for ranking genes associated with autism spectrum disorders.

Eric Larsen, Idan Menashe, Mark N Ziats and 3 others

PMID 27790361

WHAT IT FOUND

An autism genetics database ranked genes using rare and common variants linked to autism.

SHANK3, CHD8 and ADNP scored highest. It ranks genes, not patients, and offers no clinical test or treatment guidance.

Key findings

01The database contained 2187 rare variants and 711 common variants across 461 genes.

02SHANK3 had the highest rare variant score (RVS = 346), MET had the highest common variant score (CVS = 85), and SHANK3, CHD8 and ADNP had distinctly higher total gene scores than other genes.

03The gene ranking showed strong agreement with three other ASD gene lists, and 160 genes were exclusively represented in AutDB.

STILL TO COME

How it was doneWhat they foundWhat it means for SLPs

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What it does not show

This is a database and scoring analysis, not a study of patients, therapy outcomes or diagnosis. The text reports 771 common variants after filtration but later states 711 common variants in the dataset. Scores depend on published variant counts and publications, so genes studied more often can score higher; the authors describe this as a winner's curse. Scoring weights were partly based on published evidence and expert opinion, so the ranking is not a purely statistical result. The analysis excluded variants linked to intellectual disability, epilepsy, schizophrenia or bipolar disorder unless ASD was also diagnosed, so it does not address those conditions. Common variants with small effect sizes remain poorly understood and often lack replication in ASD. The paper does not report individual patients, clinical severity, prognosis or treatment response.

Declared interests

The supplied text does not include a funding or conflict-of-interest statement.

The easy way to misread this

Do not read this as a clinical test or treatment guide. It ranks genes from published genetic studies, not patients, and it reports no therapy outcomes.

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