Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

Low‐pass whole genome sequencing (LP‐WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), the sequencing‐based approach provides a similar resolution of CNV detection at a lower cost. In this s...

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Veröffentlicht in:	American journal of medical genetics. Part A 2024-11, Vol.194 (11), p.e63802-n/a
Hauptverfasser:	Mazzonetto, Patricia C., Villela, Darine, Krepischi, Ana C. V., Pierry, Paulo M., Bonaldi, Adriano, Almeida, Luiz Gustavo D., Paula, Marcelo G., Bürger, Matheus Carvalho, Oliveira, Ana Gabriela, Fonseca, Gustavo G. G., Giugliani, Roberto, Riegel‐Giugliani, Mariluce, Bertola, Débora, Yamamoto, Guilherme Lopes, Passos‐Bueno, Maria Rita, Campos, Gabriele da Silva, Machado, Ana Claudia Dantas, Mazzeu, Juliana F., Perrone, Eduardo, Zechi‐Ceide, Roseli M., Kokitsu‐Nakata, Nancy M., Vieira, Társis Paiva, Steiner, Carlos Eduardo, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Daniela Koeller Rodrigues, Boy, Raquel, Pina‐Neto, João Monteiro, Scapulatempo‐Neto, Cristovam, Milanezi, Fernanda, Rosenberg, Carla
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Adolescent Autism Autism Spectrum Disorder - diagnosis Autism Spectrum Disorder - genetics Brazil Child Child, Preschool CNV Congenital defects Copy number copy number variants Cost-Benefit Analysis Cytogenetics Developing Countries DNA Copy Number Variations - genetics Female Genetic Testing - economics Genetic Testing - methods Genomes Genomic analysis Humans Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics low‐pass whole genome sequencing Male Microarray Analysis - economics Microarray Analysis - methods Neurodevelopmental disorders Neurodevelopmental Disorders - diagnosis Neurodevelopmental Disorders - genetics next generation sequencing (NGS) Population studies postnatal diagnosis structural variant Whole genome sequencing Whole Genome Sequencing - economics Whole Genome Sequencing - methods
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