Two-Time Multiplexed Targeted Next-Generation Sequencing Might Help the Implementation of Germline Screening Tools for Myelodysplastic Syndromes/Hematologic Neoplasms
Calvete, Oriol (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Mestre, Julia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Risueño, Ruth M. (University of Atlántico Medio, Las Palmas)
Manzanares Mileo, Ana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Acha, Pamela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Xicoy, Blanca (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)

Fecha:	2023
Resumen:	Next-generation sequencing (NGS) tools have importantly helped the classification of myelodysplastic syndromes (MDS), guiding the management of patients. However, new concerns are under debate regarding their implementation in routine clinical practice for the identification of germline predisposition. Cost-effective targeted NGS tools would improve the current standardized studies and genetic counseling. Here, we present our experience in a preliminary study detecting variants using a two-time multiplexed library strategy. Samples from different MDS patients were first mixed before library preparation and later multiplexed for a sequencing run. Two different mixes including a pool of three (3×) and four (4×) samples were evaluated. The filtered variants found in the individually sequenced samples were compared with the variants found in the two-time multiplexed studies to determine the detection efficiency scores. The same candidate variants were found in the two-time multiplexed studies in comparison with the individual tNGS. The variant allele frequency (VAF) values of the candidate variants were also compared. No significant differences were found between the expected and observed VAF percentages in both the 3× (p-value 0. 74) and 4× (p-value 0. 34) multiplexed studies. Our preliminary results suggest that the two-time multiplexing strategy might have the potential to help reduce the cost of evaluating germline predisposition.
Ayudas:	Instituto de Salud Carlos III PI20/00531 Fundació la Marató de TV3 201930-30-31 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-288 Agència de Gestió d'Ajuts Universitaris i de Recerca 2023FI-100200
Nota:	Altres ajuts: José Carreras Leukämie Stiftung 2020, DJCLS 01R/2021; Asociación Española contra el Cáncer, AC 18/000002;
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Myelodysplastic syndromes (MDS) ; Genetic predisposition ; Targeted next-generation sequencing (tNGS) ; Germline variants ; Genomic screening ; Multiplexed samples
Publicado en:	Biomedicines, Vol. 11 Núm. 12 (december 2023) , ISSN 2227-9059

DOI: 10.3390/biomedicines11123222
PMID: 38137443

10 p, 1.3 MB

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Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Instituto de Investigación contra la Leucemia Josep Carreras
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