Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice
- Autores
- Millar Vernetti, Patricio Alejandro; Ruiz Yanzi, María Agustina; Rossi, Malco Damian; Merello, Marcelo Jorge
- Año de publicación
- 2022
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Use of next-generation sequencing, including whole-exome sequencing (WES) has not only allowed diagnosis to be reached in patients with atypical phenotypes, but also led to detection of new pathogenic variants, as well as to linking of specific clinical manifestations to known diseases. Nevertheless, controversy persists regarding routine implementation of WES in clinical practice [1, 2]. Interpretation of results and understanding of the clinical relevance can be problematic, particularly in cases of variants of unknown significance (VUS) [3]. Application of WES can however be cost-effective when based on appropriate clinical criteria, and may even reduce costs by limiting unnecessary complementary studies [4]. Although slowly becoming more financially accessible, WES remains an expensive study. Inappropriate or indiscriminate use may increase overall healthcare costs, without providing significant benefit. In addition, WES does not detect large gene deletions or duplications, or expansion disorders such as triplet repeat expansions, or genes located on non-coding segments of the genome (introns), and therefore is not useful to diagnose diseases caused by these particular mutations [1, 2]. The diagnostic yield of WES in different case series of adult patients with neurological diseases has consistently been around 30% [5, 6]. In children, similar [7–9], or somewhat higher values have been reported [10]. More specifically in movement disorders, a study including 378 patients with atypical or combined phenotypes, found the diagnostic yield was 22% [11].
Fil: Millar Vernetti, Patricio Alejandro. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Ruiz Yanzi, María Agustina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Rossi, Malco Damian. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Merello, Marcelo Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina - Materia
-
CONTROVERSIES
DIAGNOSIS
GENETICS
WES
WHOLE-EXOME SEQUENCING - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/216393
Ver los metadatos del registro completo
id |
CONICETDig_d61f5413d49e82de101b311d64fda3ca |
---|---|
oai_identifier_str |
oai:ri.conicet.gov.ar:11336/216393 |
network_acronym_str |
CONICETDig |
repository_id_str |
3498 |
network_name_str |
CONICET Digital (CONICET) |
spelling |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical PracticeMillar Vernetti, Patricio AlejandroRuiz Yanzi, María AgustinaRossi, Malco DamianMerello, Marcelo JorgeCONTROVERSIESDIAGNOSISGENETICSWESWHOLE-EXOME SEQUENCINGhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Use of next-generation sequencing, including whole-exome sequencing (WES) has not only allowed diagnosis to be reached in patients with atypical phenotypes, but also led to detection of new pathogenic variants, as well as to linking of specific clinical manifestations to known diseases. Nevertheless, controversy persists regarding routine implementation of WES in clinical practice [1, 2]. Interpretation of results and understanding of the clinical relevance can be problematic, particularly in cases of variants of unknown significance (VUS) [3]. Application of WES can however be cost-effective when based on appropriate clinical criteria, and may even reduce costs by limiting unnecessary complementary studies [4]. Although slowly becoming more financially accessible, WES remains an expensive study. Inappropriate or indiscriminate use may increase overall healthcare costs, without providing significant benefit. In addition, WES does not detect large gene deletions or duplications, or expansion disorders such as triplet repeat expansions, or genes located on non-coding segments of the genome (introns), and therefore is not useful to diagnose diseases caused by these particular mutations [1, 2]. The diagnostic yield of WES in different case series of adult patients with neurological diseases has consistently been around 30% [5, 6]. In children, similar [7–9], or somewhat higher values have been reported [10]. More specifically in movement disorders, a study including 378 patients with atypical or combined phenotypes, found the diagnostic yield was 22% [11].Fil: Millar Vernetti, Patricio Alejandro. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Ruiz Yanzi, María Agustina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Rossi, Malco Damian. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Merello, Marcelo Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaUbiquity Press2022-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/216393Millar Vernetti, Patricio Alejandro; Ruiz Yanzi, María Agustina; Rossi, Malco Damian; Merello, Marcelo Jorge; Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice; Ubiquity Press; Tremor and Other Hyperkinetic Movements; 12; 1; 4-2022; 1-92160-8288CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://tremorjournal.org/articles/10.5334/tohm.678info:eu-repo/semantics/altIdentifier/doi/10.5334/tohm.678info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:10:28Zoai:ri.conicet.gov.ar:11336/216393instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:10:29.25CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice |
title |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice |
spellingShingle |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice Millar Vernetti, Patricio Alejandro CONTROVERSIES DIAGNOSIS GENETICS WES WHOLE-EXOME SEQUENCING |
title_short |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice |
title_full |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice |
title_fullStr |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice |
title_full_unstemmed |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice |
title_sort |
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice |
dc.creator.none.fl_str_mv |
Millar Vernetti, Patricio Alejandro Ruiz Yanzi, María Agustina Rossi, Malco Damian Merello, Marcelo Jorge |
author |
Millar Vernetti, Patricio Alejandro |
author_facet |
Millar Vernetti, Patricio Alejandro Ruiz Yanzi, María Agustina Rossi, Malco Damian Merello, Marcelo Jorge |
author_role |
author |
author2 |
Ruiz Yanzi, María Agustina Rossi, Malco Damian Merello, Marcelo Jorge |
author2_role |
author author author |
dc.subject.none.fl_str_mv |
CONTROVERSIES DIAGNOSIS GENETICS WES WHOLE-EXOME SEQUENCING |
topic |
CONTROVERSIES DIAGNOSIS GENETICS WES WHOLE-EXOME SEQUENCING |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
Use of next-generation sequencing, including whole-exome sequencing (WES) has not only allowed diagnosis to be reached in patients with atypical phenotypes, but also led to detection of new pathogenic variants, as well as to linking of specific clinical manifestations to known diseases. Nevertheless, controversy persists regarding routine implementation of WES in clinical practice [1, 2]. Interpretation of results and understanding of the clinical relevance can be problematic, particularly in cases of variants of unknown significance (VUS) [3]. Application of WES can however be cost-effective when based on appropriate clinical criteria, and may even reduce costs by limiting unnecessary complementary studies [4]. Although slowly becoming more financially accessible, WES remains an expensive study. Inappropriate or indiscriminate use may increase overall healthcare costs, without providing significant benefit. In addition, WES does not detect large gene deletions or duplications, or expansion disorders such as triplet repeat expansions, or genes located on non-coding segments of the genome (introns), and therefore is not useful to diagnose diseases caused by these particular mutations [1, 2]. The diagnostic yield of WES in different case series of adult patients with neurological diseases has consistently been around 30% [5, 6]. In children, similar [7–9], or somewhat higher values have been reported [10]. More specifically in movement disorders, a study including 378 patients with atypical or combined phenotypes, found the diagnostic yield was 22% [11]. Fil: Millar Vernetti, Patricio Alejandro. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina Fil: Ruiz Yanzi, María Agustina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina Fil: Rossi, Malco Damian. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina Fil: Merello, Marcelo Jorge. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina |
description |
Use of next-generation sequencing, including whole-exome sequencing (WES) has not only allowed diagnosis to be reached in patients with atypical phenotypes, but also led to detection of new pathogenic variants, as well as to linking of specific clinical manifestations to known diseases. Nevertheless, controversy persists regarding routine implementation of WES in clinical practice [1, 2]. Interpretation of results and understanding of the clinical relevance can be problematic, particularly in cases of variants of unknown significance (VUS) [3]. Application of WES can however be cost-effective when based on appropriate clinical criteria, and may even reduce costs by limiting unnecessary complementary studies [4]. Although slowly becoming more financially accessible, WES remains an expensive study. Inappropriate or indiscriminate use may increase overall healthcare costs, without providing significant benefit. In addition, WES does not detect large gene deletions or duplications, or expansion disorders such as triplet repeat expansions, or genes located on non-coding segments of the genome (introns), and therefore is not useful to diagnose diseases caused by these particular mutations [1, 2]. The diagnostic yield of WES in different case series of adult patients with neurological diseases has consistently been around 30% [5, 6]. In children, similar [7–9], or somewhat higher values have been reported [10]. More specifically in movement disorders, a study including 378 patients with atypical or combined phenotypes, found the diagnostic yield was 22% [11]. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-04 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/216393 Millar Vernetti, Patricio Alejandro; Ruiz Yanzi, María Agustina; Rossi, Malco Damian; Merello, Marcelo Jorge; Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice; Ubiquity Press; Tremor and Other Hyperkinetic Movements; 12; 1; 4-2022; 1-9 2160-8288 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/216393 |
identifier_str_mv |
Millar Vernetti, Patricio Alejandro; Ruiz Yanzi, María Agustina; Rossi, Malco Damian; Merello, Marcelo Jorge; Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice; Ubiquity Press; Tremor and Other Hyperkinetic Movements; 12; 1; 4-2022; 1-9 2160-8288 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://tremorjournal.org/articles/10.5334/tohm.678 info:eu-repo/semantics/altIdentifier/doi/10.5334/tohm.678 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Ubiquity Press |
publisher.none.fl_str_mv |
Ubiquity Press |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
_version_ |
1842270121337290752 |
score |
13.13397 |