{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Khazeeva G"],"funding":["Dutch Research Council (NWO)"],"pagination":["e97"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9508836"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["50(17)"],"pubmed_abstract":["De novo mutations (DNMs) are an important cause of genetic disorders. The accurate identification of DNMs from sequencing data is therefore fundamental to rare disease research and diagnostics. Unfortunately, identifying reliable DNMs remains a major challenge due to sequence errors, uneven coverage, and mapping artifacts. Here, we developed a deep convolutional neural network (CNN) DNM caller (DeNovoCNN), that encodes the alignment of sequence reads for a trio as 160$ \\times$164 resolution images. DeNovoCNN was trained on DNMs of 5616 whole exome sequencing (WES) trios achieving total 96.74% recall and 96.55% precision on the test dataset. We find that DeNovoCNN has increased recall/sensitivity and precision compared to existing DNM calling approaches (GATK, DeNovoGear, DeepTrio, Samtools"],"journal":["Nucleic acids research"],"pubmed_title":["DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data."],"pmcid":["PMC9508836"],"funding_grant_id":["917-17-353"],"pubmed_authors":["Rots D","Khazeeva G","van Gerven M","Gilissen C","Sablauskas K","Steyaert W","Yntema H","Vissers L","van der Sanden B","Hinne M","Kwint M"],"additional_accession":[]},"is_claimable":false,"name":"DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.","description":"De novo mutations (DNMs) are an important cause of genetic disorders. The accurate identification of DNMs from sequencing data is therefore fundamental to rare disease research and diagnostics. Unfortunately, identifying reliable DNMs remains a major challenge due to sequence errors, uneven coverage, and mapping artifacts. Here, we developed a deep convolutional neural network (CNN) DNM caller (DeNovoCNN), that encodes the alignment of sequence reads for a trio as 160$ \\times$164 resolution images. DeNovoCNN was trained on DNMs of 5616 whole exome sequencing (WES) trios achieving total 96.74% recall and 96.55% precision on the test dataset. We find that DeNovoCNN has increased recall/sensitivity and precision compared to existing DNM calling approaches (GATK, DeNovoGear, DeepTrio, Samtools","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2025-04-18T20:56:26.769Z","creation":"2025-04-07T09:02:04.809Z"},"accession":"S-EPMC9508836","cross_references":{"pubmed":["35713566"],"doi":["10.1093/nar/gkac511"]}}