Repository logo
 
Publication

Analysis of paterniy cases with a single exclusion in a genetic marker using precision ID GLOBALFILER™ NGS STR PANEL v2

2024-09Conference object Open access
Simple item page
dc.contributor.authorGouveia, Nair
dc.contributor.authorLopes, Virginia
dc.contributor.authorPorto, Maria João
dc.contributor.authorBento, Ana
dc.contributor.authorAndrade Sampaio, Lisa
dc.contributor.authorSerra, Armando
dc.contributor.authorBalsa, Filipa
dc.contributor.authorBogas, Vanessa
dc.contributor.authorSão Bento, Marta
dc.contributor.authorAmorim, António
dc.date.accessioned2025-01-24T15:11:46Z
dc.date.available2025-01-24T15:11:46Z
dc.date.issued2024-09
dc.descriptionPóster apresentado no 30th Congress of the International Society for Forensic Genetics, 9-13 de setembro de 2024, Santiago de Compostela, Espanhapt_PT
dc.description.abstractPaternity test results can sometimes evidence incompatibilities in the allelic transmission from parents to children, such as the presence of a single exclusion in one specific genetic marker, revealing a mismatch between the genetic profiles of the biological parent and the offspring. In these cases, it is important to determine whether the exclusion could be the result of a mutation or other factors as null or silent alleles. Capillary electrophoresis (CE) is the traditional method used in forensic genetics to analyze STRs (Short Tandem Repeats), however it is not possible to know the exact allele number variation due to the lack of sequence data. The application of Next-Generation Sequencing (NGS) technology may provide additional information, since it allows to detect and sequence simultaneously SNPs (Single Nucleotide Polymorphisms) present in the flanking regions and also distinguish isometric alleles with the same length but different sequences, that were misinterpreted as homozygous. In this study, a set of reference samples (buccal swabs and blood stains), previously amplified with the GlobalFiler™ PCR Amplification Kit and sequenced by CE on the 3500 Genetic Analyzer, were selected from paternity cases with a single exclusion, reported after GeneMapper ID-X Software analysis. All samples were automatically prepared with the Precision ID GlobalFiler™ NGS STR Panel v2 on the Ion Chef™ System, followed by sequencing on the Ion S5™ System and finally Converge™ Software analysis, according to the manufacturer’s instructions. The aim was to verify if the NGS methodology provides valuable information in these paternity cases and to identify the parental origin of a mutant allele. The NGS results were in concordance with those obtained by CE. In addition, this methodology demonstrated to be useful to clarify the paternity cases, because it enables a higher power of discrimination through 9 additional multi-allelic STRs, in a total of 35 markers instead of 24 markers of the GlobalFiler™ PCR Amplification Kit used in the traditional method. Therefore, the Precision ID GlobalFiler™ NGS STR Panel v2 shows to be a powerful method for kinship analyses and typing reference samples.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.26/53999
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectPaternity Triospt_PT
dc.subjectSingle Exclusionpt_PT
dc.subjectNGSpt_PT
dc.titleAnalysis of paterniy cases with a single exclusion in a genetic marker using precision ID GLOBALFILER™ NGS STR PANEL v2pt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceSantiago de Compostela, Espanhapt_PT
oaire.citation.title30th Congress of the International Society for Forensic Geneticspt_PT
person.familyNameLopes
person.familyNameVentura Teixeira Bento
person.familyNameAndrade Sampaio
person.familyNameSerra
person.familyNameBogas
person.familyNameAmorim
person.givenNameVirginia
person.givenNameAna Margarida
person.givenNameLisa
person.givenNameArmando
person.givenNameVanessa
person.givenNameAntónio
person.identifier.ciencia-idF91D-FDD9-A6A2
person.identifier.ciencia-idD71C-9C88-4E0E
person.identifier.orcid0000-0002-7915-826X
person.identifier.orcid0000-0002-6295-8623
person.identifier.orcid0009-0007-6977-3465
person.identifier.orcid0009-0008-6482-2616
person.identifier.orcid0000-0001-7929-5814
person.identifier.orcid0000-0002-7506-4426
person.identifier.ridA-4414-2013
person.identifier.scopus-author-id35076952400
person.identifier.scopus-author-id35253426400
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication54cc4e0e-42af-4930-babd-6d3bb7827348
relation.isAuthorOfPublication9dd95e11-d9a1-4d9e-8973-7a07d4f392bb
relation.isAuthorOfPublication79aaf1fc-5982-4796-8361-bb54bddb9be1
relation.isAuthorOfPublication9ca8775d-59db-4fd9-8669-6b7c27bb4ce0
relation.isAuthorOfPublication16ea7029-0a03-42e0-b445-c19ac82486dc
relation.isAuthorOfPublication71c1447c-fe17-438b-bba1-256e3abdb87a
relation.isAuthorOfPublication.latestForDiscovery9dd95e11-d9a1-4d9e-8973-7a07d4f392bb

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Poster n. 326_ISFG 2024_Nair Gouveia.pdf
Size:
291.29 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.85 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

INMLCF - Comunicações Científicas e Pósteres