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SeeCiTe: a method to assess CNV calls from SNP arrays using trio data [article]

Ksenia Lavrichenko, Øyvind Helgeland, Pål R Njølstad, Inge Jonassen, Stefan Johansson
2020 bioRxiv   pre-print
Results: We developed SeeCiTe (Seeing Cnvs in Trios), a novel CNV quality control tool that post-processes output from current CNV calling tools exploiting child-parent trio data to classify calls in quality  ...  However current tools for calling CNVs are still prone to extensive false positive calls when applied to biobank scale arrays.  ...  We thank the Norwegian Institute of Public Health (NIPH) for generating high-quality genomic data.  ... 
doi:10.1101/2020.09.28.316372 fatcat:duqb3ka63jfgjm7lkohribkfmy

SeeCiTe: a method to assess CNV calls from SNP arrays using trio data

Ksenia Lavrichenko, Øyvind Helgeland, Pål R Njølstad, Inge Jonassen, Stefan Johansson
2021 Bioinformatics  
We developed SeeCiTe (Seeing Cnvs in Trios), a novel CNV quality control tool that post-processes output from current CNV calling tools exploiting child-parent trio data to classify calls in quality categories  ...  However current tools for calling CNVs are still prone to extensive false positive calls when applied to biobank scale arrays.  ...  We are grateful to all the participating families in Norway who take part in this ongoing cohort study.  ... 
doi:10.1093/bioinformatics/btab028 pmid:33459766 fatcat:etumjn6pdbhwvj5r57oehdyqaq