Phenotypic effects of genetic variants associated with autism.

Authors:
Rolland T; Cliquet F; Anney RJL; Moreau C; Traut N and 20 more

Journal:
Nat Med

Publication Year: 2023

DOI:
10.1038/s41591-023-02408-2

PMCID:
PMC10353945

PMID:
37365347

Journal Information

Full Title: Nat Med

Abbreviation: Nat Med

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Molecular Biology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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4/6
66.7% Transparent
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Evidence found in paper:

"code availability code used to implement the post-processing analyses in this paper is available at https://github com/thomas-rolland/subdiagnostic-autism-variants ."

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"Competing interests The authors declare no competing interests."

Evidence found in paper:

"This research has been conducted using the SSC and SPARK from the Simons Foundation Autism Research Initiative. This research has been conducted using the UK Biobank Resource under application no. 18584. This work was supported by a grant from SFARI (240059, to T.B.). We are grateful to all of the families at the participating SSC sites, at the participating Simons Searchlight sites, the SSC, as well as the principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, R. Goin-Kochel, E. Hanson, D. Grice, A. Klin, D. Ledbetter, C. Lord, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, K. Pelphrey, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, Z. Warren and E. Wijsman). We appreciate obtaining access to SNP arrays, WES and phenotypic data on SFARI Base. The authors thank the members of the Human Genetics and Cognitive Functions laboratory for helpful discussions and K. Kumar, A. Harvey, A. Proulx and H. Sharmarke for helping with the QC of the UK Biobank rs-fMRI preprocessed data. S.J. is supported by Calcul Quebec (http://www.calculquebec.ca) and Compute Canada (http://www.computecanada.ca), NIH U01 grant for CAMP (1U01MH119690–01), the Canadian Institutes of Health Research, CIHR_400528, and the Institute of Data Valorization (IVADO) through the Canada First Research Excellence Fund. S.J. is a recipient of a Canada Research Chair in neurodevelopmental disorders and a chair from the Jeanne et Jean Louis Levesque Foundation. This work was funded by Institut Pasteur, the Bettencourt-Schueller Foundation, Université de Paris, the Conny-Maeva Charitable Foundation, the Cognacq Jay Foundation, the Eranet-Neuron (ALTRUISM) and the GenMed Labex, AIMS-2-TRIALS, which received support from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement no. 777394 and the Inception program (Investissement d’Avenir grant ANR-16-CONV-0005). This project has received funding from the Horizon Europe programs CANDY and R2D2-MH under grant agreement nos. 847818 and 101057385. Views and opinions expressed are, however, those of the authors only and do not necessarily reflect those of the European Union. Neither the European Union nor the granting authority can be held responsible for them. Additionally, for UK partners, the work was funded by UK Research and Innovation under the UK government’s Horizon Europe funding guarantee (grant no.10039383). The iPSYCH team was supported by grants from the Lundbeck Foundation (R102-A9118, R155-2014-1724 and R248-2017-2003) and the Universities and University Hospitals of Aarhus and Copenhagen. High-performance computer capacity for handling and statistical analysis of iPSYCH data on the GenomeDK HPC facility was provided by the Center for Genomics and Personalized Medicine and the Centre for Integrative Sequencing, iSEQ, Aarhus University, Denmark (grant to A.D.B.). S.B.C. received funding from the Wellcome Trust 214322\Z\18\Z, support from the European Union’s Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI. S.B.C. also received funding from the Autism Centre of Excellence, SFARI, the Templeton World Charitable Fund, the Medical Research Council and the National Institute for Health Research Cambridge Biomedical Research Centre. The research was supported by the National Institute for Health Research Applied Research Collaboration East of England. Any views expressed are those of the authors and not necessarily those of the funder."

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