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Analyzing the large and complex SFARI autism cohort data using the Genotypes and Phenotypes in Families (GPF) platform.

Genome research - 1 Oct 2025

Chorbadjiev Liubomir, Cokol Murat, Weinstein Zohar, Shi Kevin, Fleisch Christopher, Dimitrov Nikolay, Mladenov Svetlin, Todorov Ivo, Ivanov Iordan, Xu Simon, Ford Steven, Lee Yoon-Ha, Yamrom Boris, Marks Steven, Munoz Adriana, Lash Alex, Volfovsky Natalia, Iossifov Ivan

Abstract excerpt

The exploration of genotypic variants impacting phenotypes is a cornerstone in genetics research. The emergence of vast collections containing deeply genotyped and phenotyped families has made it possible to pursue the search for variants associated with complex diseases. However, managing these large-scale data sets requires specialized computational tools to organize and analyze the extensive data. Genotypes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40957659
DOI: 10.1101/gr.280356.124
PMCID: PMC12487831

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