2026-10-11T14:46:43Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34000776 2026-09-25T18:00:36Z category_12 category_13 category_272 category_734 category_64 category_132 portal_5 item_type_3 month_year_09_2026

<p>Recurrent neuropsychiatric CNVs.</p> Navneet Aujla (369403) Bhooma Thiruvahindrapuram (143687) Selina Casalino (5559998) Erika Frangione (21452213) Radhika Mahajan (25111576) David Di Iorio (25111579) Chun Yiu Jordan Fung (25111582) Lochana Jayachandran (25111585) Georgia MacDonald (25111588) Gregory Morgan (23296090) Dawit Wolday (240005) Juliet Young (24736690) Maahil Arshad (25111591) Marc Clausen (9220316) Saranya Arnoldo (25111594) Alexandra Binnie (6456329) Bjug Borgundvaag (349276) Sunakshi Chowdhary (25111597) Marc Dagher (25111600) Luke Devine (11925623) Steven Marc Friedman (25111603) Anne-Claude Gingras (154225) Lee W. Goneau (25111606) Zeeshan Khan (5040140) Elisa Lapadula (25111609) Tony Mazzulli (138922) Allison McGeer (196862) Shelley McLeod (9697528) Chloe Mighton (18218371) Trevor J. Pugh (3141498) David Richardson (813629) Jared Simpson (537817) Seth Stern (25111612) Ahmed Taher (8883029) Lisa Strug (73567) Yvonne Bombard (5559995) Hanna Faghfoury (524933) Elena Greenfeld (25111615) Stephen W. Scherer (7434836) Jennifer Taher (21452378) Abdul Noor (4632388) Jordan Lerner-Ellis (18239616) Cell Biology Genetics Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified Cancer Infectious Diseases potential clinical relevance copy number variation copy number variant canadian population encompassing 08 %) encompassed hostseq population cohort analysis pipelines allows personal disease risk 10 %) encompassed recurrent cnvs associated putatively pathogenic dataset 334 cnv calls integrating cnv workflows 82 cnvs identified either tier 1 putatively pathogenic 99 %) regions associated rare dataset hostseq initiative analysis pipeline cnv calls cnv deletions identifying cnvs determined cnvs cnvs implicated cnvs identified 631 cnvs 206 cnvs xlink "> wide range sensitive gene reproductive planning omim morbid novel resource neurodevelopmental disorders medical genomics least 80 least 10 inheritance pattern genome sequencing decipher region decipher datasets data resource clingen dosage <div><p>The integration of copy number variant (CNV) workflows into genome sequencing (GS) analysis pipelines allows for the identification of CNVs implicated in disease. Here, we generated a novel resource of CNVs identified in the HostSeq population cohort from Canada, identified the prevalence of recurrent CNVs associated with neurodevelopmental disorders, and determined CNVs of potential clinical relevance for reproductive planning and personal disease risk. GS data and CNV calls were generated for 10,488 participants from across Canada as part of the HostSeq initiative. The CNV calls were filtered to generate a rare dataset, which was further filtered into the OMIM morbid, ClinGen dosage, and DECIPHER datasets. CNV deletions were stratified into either Tier 1, 2, or 3 based on the inheritance pattern of the genes involved. A putatively pathogenic dataset was generated by identifying CNVs in the ClinGen dosage and DECIPHER datasets with at least 80% overlap with previously identified pathogenic CNVs. A total of 8,543,334 CNV calls were generated. Filtering for rare variants yielded 36,631 CNVs, of which 9,922 (27.08%) encompassed at least one OMIM gene, 728 (1.99%) had at least 10% overlap with a DECIPHER region, and 1,136 (3.10%) encompassed at least one ClinGen dosage-sensitive gene. CNV deletions were stratified into 1,833 Tier 1 deletions, 32 Tier 2 deletions, and 184 Tier 3 deletions. There were 82 CNVs identified in regions associated with neurodevelopmental disorders. Of the genes with either a ClinGen dosage sensitivity score or overlap with a DECIPHER region, 206 CNVs were deemed as putatively pathogenic. We were able to detect a wide range of CNVs, highlighting the use of integrating CNV workflows into the analysis pipeline, and generated a data resource for medical genomics for the Canadian population encompassing the full spectrum of CNVs.</p></div> 2026-09-25T18:00:23Z Dataset Dataset 10.1371/journal.pone.0359210.s009 https://figshare.com/articles/dataset/_p_Recurrent_neuropsychiatric_CNVs_p_/34000776 CC BY 4.0