Your browser doesn't support javascript.
loading
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Mazzonetto, Patricia C; Villela, Darine; da Costa, Silvia Souza; Krepischi, Ana C V; Milanezi, Fernanda; Migliavacca, Michele P; Pierry, Paulo M; Bonaldi, Adriano; Almeida, Luiz Gustavo D; De Souza, Camila Alves; Kroll, José Eduardo; Paula, Marcelo G; Guarischi-Sousa, Rodrigo; Scapulatempo-Neto, Cristovam; Rosenberg, Carla.
Afiliación
  • Mazzonetto PC; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
  • Villela D; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • da Costa SS; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Krepischi ACV; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
  • Milanezi F; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
  • Migliavacca MP; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Pierry PM; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Bonaldi A; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Almeida LGD; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • De Souza CA; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Kroll JE; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Paula MG; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Guarischi-Sousa R; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Scapulatempo-Neto C; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
  • Rosenberg C; Diagnósticos da América S.A., DASA, São Paulo, Brazil.
Ann Hum Genet ; 88(2): 113-125, 2024 03.
Article en En | MEDLINE | ID: mdl-37807935
INTRODUCTION: Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an alternative method for CNV analysis is the low-pass whole genome sequencing (LP-WGS). Here, we evaluated the performance of LP-WGS to detect copy number variants (CNVs) in clinical cytogenetics. MATERIALS AND METHODS: DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected for comparison and used as positive controls; our panel included 44 DNA samples (12 prenatal and 32 postnatal), comprising a total of 55 chromosome imbalances. The selected cases were chosen to provide a wide range of clinically relevant CNVs, the vast majority being associated with intellectual disability or recognizable syndromes. The chromosome imbalances ranged in size from 75 kb to 90.3 Mb, including aneuploidies and two cases of mosaicism. RESULTS: All CNVs were successfully detected by LP-WGS, showing a high level of consistency and robust performance of the sequencing method. Notably, the size of chromosome imbalances detected by CMA and LP-WGS were compatible between the two different platforms, which indicates that the resolution and sensitivity of the LP-WGS approach are at least similar to those provided by CMA. DISCUSSION: Our data show the potential use of LP-WGS to detect CNVs in clinical diagnosis and confirm the method as an alternative for chromosome imbalances detection. The diagnostic effectiveness and feasibility of LP-WGS, in this technical validation study, were evidenced by a clinically representative dataset of CNVs that allowed a systematic assessment of the detection power and the accuracy of the sequencing approach. Further, since the software used in this study is commercially available, the method can easily be tested and implemented in a routine diagnostic setting.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Aneuploidia Tipo de estudio: Health_economic_evaluation Límite: Female / Humans / Pregnancy Idioma: En Revista: Ann Hum Genet Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Aneuploidia Tipo de estudio: Health_economic_evaluation Límite: Female / Humans / Pregnancy Idioma: En Revista: Ann Hum Genet Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido