2026-10-13T10:42:44Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34000806 2026-09-25T18:00:49Z category_12 category_13 category_272 category_734 category_64 category_132 portal_5 item_type_3 month_year_09_2026

<p>Frequency and prevalence estimates of known recurrent pathogenic CNVs in the HostSeq cohort.</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 <p>Frequency and prevalence estimates of known recurrent pathogenic CNVs in the HostSeq cohort.</p> 2026-09-25T18:00:23Z Dataset Dataset 10.1371/journal.pone.0359210.t002 https://figshare.com/articles/dataset/_p_Frequency_and_prevalence_estimates_of_known_recurrent_pathogenic_CNVs_in_the_HostSeq_cohort_p_/34000806 CC BY 4.0