Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting
PC Mazzonetto, D Villela, SS da Costa… - Annals of Human …, 2024 - Wiley Online Library
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 …
required for sequencing a genome. An approach that is rapidly being adopted as an …
First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways
TFM Aguiar, MP Rivas, EM de Andrade Silva… - Biochemical …, 2024 - Springer
Hepatoblastoma stands as the most prevalent liver cancer in the pediatric population.
Characterized by a low mutational burden, chromosomal and epigenetic alterations are key …
Characterized by a low mutational burden, chromosomal and epigenetic alterations are key …
[HTML][HTML] Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on …
T Płatek, M Sordyl, A Polus, A Olszanecka… - Mutation Research …, 2023 - Elsevier
Barth syndrome is a rare disease affecting mitochondria structure and function in males. In
our previous study, we have shown a new mutation (c. 83T> A, p. Val28Glu) in the TAZ gene …
our previous study, we have shown a new mutation (c. 83T> A, p. Val28Glu) in the TAZ gene …
[PDF][PDF] Progresos y retos de la Toxicología Genética.
C Ordoñez, V Reyes - Revista de Toxicología, 2023 - rev.aetox.es
Esta revisión resume los principales avances de la citogenética y proporciona una
perspectiva sobre el futuro de la toxicología genética, desde el pasado, presente y futuro …
perspectiva sobre el futuro de la toxicología genética, desde el pasado, presente y futuro …
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low-and middle-income countries
PC Mazzonetto, D Villela, ACV Krepischi, PM Pierry… - 2023 - researchsquare.com
We recently demonstrated that low-pass whole-genome sequencing (LP-WGS) with 1x
coverage is equally sensitive and specific as chromosome microarray analysis (CMA) for …
coverage is equally sensitive and specific as chromosome microarray analysis (CMA) for …
Transcriptome Dysregulation in Hepatoblastoma: The Pivotal Role of Noncoding Rnas and Changes in Lipid Metabolism
MP Rivas, TFM Aguiar, EM de Andrade, SF Pires… - 2022 - researchsquare.com
Hepatoblastoma, the most common liver tumor in children and exhibited the lowest
mutational burden among solid cancers, pointing to chromosomal and epigenetic changes …
mutational burden among solid cancers, pointing to chromosomal and epigenetic changes …
Mecanismos epigenéticos em hepatoblastomas: análise do transcriptoma e sua regulação por metilação de DNA
MP Rivas - 2021 - teses.usp.br
Mecanismos epigenéticos em hepatoblastomas: análise do transcriptoma e sua regulação
por metilação de DNA. Tumores hepáticos em crianças são raros, representando 1-4% de …
por metilação de DNA. Tumores hepáticos em crianças são raros, representando 1-4% de …