SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

"based on this argument these variants have recently been submitted as likely pathogenic in clinvar (vcv001496460 1 vcv001506261 1) [ ]."

"to integrate spliceai-visual in mobidetails we have used spliceai v1 3 1 to pre-compute the rs for 57271 transcripts including 19120 matched annotation by ncbi and embl-ebi (mane) transcripts available on the web site [ ] using illumina(r) models available for non-commercial usage (see https://github com/illumina/spliceai for more details).; the variant position is highlighted in yellow a dedicated flask api ( https://palletsprojects com/p/flask/ ) available in a private server (source code available at https://github com/mobidic/spliceai ) is asynchronously called by the public mobidetails server to compute the variant allele rs (in about 30 s) (see additional file 1 : fig s1).; mobidetails code is available at https://github com/beboche/mobidetails and the spliceai rest api code designed for this work at https://github com/mobidic/spliceai ."

"Declarations Ethics approval and consent to participateA written informed consent was obtained from all participants as required by the guidelines of the Declaration of Helsinki, and approved on April, 8, 2019, by the Research Ethics Committee of Brest (IDRCB: 2018-A02287-48). Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

"Funding This work was funded by AFM Grant 21384 (The French Muscular Dystrophy Association (AFM-Téléthon)) and the Délégation à la Recherche Clinique et à l'Innovation du Groupement de Coopération Sanitaire de la Mission d'Enseignement, de Recherche, de Référence et d'Innovation (DRCI-GCS-MERRI) de Montpellier-Nîmes."