{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16(11)"],"submitter":["Jagannathan V"],"pubmed_abstract":["<h4>Background/objectives</h4>Fresh frozen (FF) samples are routinely used to isolate high-molecular-weight intact genomic DNA. However, when FF samples are not available, archived formalin-fixed paraffin-embedded (FFPE) tissue samples often represent the only available material in clinical research. Due to formaldehyde-induced degradation of nucleic acids they pose special challenges for genetic investigations. In this study we compare whole-genome sequencing results on intact DNA versus fragmented DNA derived from FFPE samples of three dogs.<h4>Methods</h4>We prepared matched libraries from FF and FFPE samples of three dogs affected by an inherited disease, <i>EFNB3</i>-related congenital mirror movement disorder 1 (CMM1). Paired-end short-read sequencing data were obtained on an Illumin"],"journal":["Genes"],"pagination":["1371"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12652997"],"repository":["biostudies-literature"],"pubmed_title":["Germline Variant Call Accuracy in Whole Genome Sequence Data from Canine Formalin-Fixed Paraffin-Embedded Tissue Samples."],"pmcid":["PMC12652997"],"pubmed_authors":["Jagannathan V","Leeb T"],"additional_accession":[]},"is_claimable":false,"name":"Germline Variant Call Accuracy in Whole Genome Sequence Data from Canine Formalin-Fixed Paraffin-Embedded Tissue Samples.","description":"<h4>Background/objectives</h4>Fresh frozen (FF) samples are routinely used to isolate high-molecular-weight intact genomic DNA. However, when FF samples are not available, archived formalin-fixed paraffin-embedded (FFPE) tissue samples often represent the only available material in clinical research. Due to formaldehyde-induced degradation of nucleic acids they pose special challenges for genetic investigations. In this study we compare whole-genome sequencing results on intact DNA versus fragmented DNA derived from FFPE samples of three dogs.<h4>Methods</h4>We prepared matched libraries from FF and FFPE samples of three dogs affected by an inherited disease, <i>EFNB3</i>-related congenital mirror movement disorder 1 (CMM1). Paired-end short-read sequencing data were obtained on an Illumin","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-05-20T03:09:53.778Z","creation":"2026-05-20T03:08:46.49Z"},"accession":"S-EPMC12652997","cross_references":{"pubmed":["41300821"],"doi":["10.3390/genes16111371"]}}