Natalia Volfovsky

The GPF platform manages and analyzes large family genotypic and phenotypic data for autism research, enabling variant analysis and secure data sharing.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

The paper shows damaging de novo mutations in ASD are linked to impaired motor skills, independent of IQ, and proposes a new classification of phenotypic severity based on these associations.

This study uses a machine-learning approach to predict autism-associated genes and identifies key pathways and developmental stages involved in ASD.