Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses
Luise Longo Angeloni, Josep Jorente, Ruy Pires de Oliveira, Vera Lúcia Gil-da-Silva-Lopes, Carolina Gama Vidoti-Nascimento, Mara Sanches Guaragna, Tarsis Paiva Vieira, Carlos Eduardo Steiner, Anne Caroline Barbosa Teixeira, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’ Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra · 2026
Read Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses by Luise Longo Angeloni, Josep Jorente, Ruy Pires de Oliveira, Vera Lúcia Gil-da-Silva-Lopes, Carolina Gama Vidoti-Nascimento, Mara Sanches Guaragna, Tarsis Paiva Vieira, Carlos Eduardo Steiner, Anne Caroline Barbosa Teixeira, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’ Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13399297.txt.
Description
Luise Longo Angeloni leads a large Brazilian team reporting whole-genome sequencing results for patients with neurofibromatosis type 1, in a 2026 paper. This genetic disorder, caused by faults in the NF1 gene on chromosome 17, produces skin markings, eye signs, bone problems, and a raised risk of tumors. Clinical diagnosis can be hard in young children, whose only sign may be a few café-au-lait spots.
The work sits inside the Brazilian Rare Genomes Project, a public-private effort bringing genome sequencing into the public health system. Standard sequencing already finds the responsible variant in most diagnosed patients, yet mosaic cases and structural rearrangements can hide from it. Whole-genome sequencing can also surface novel NF1 variants, incidental findings unrelated to the reason for testing, and occasional dual diagnoses. The authors present their cohort as evidence for what genome-wide testing adds beyond targeted panels in this disorder.
Catalog record
| CREATOR | Luise Longo Angeloni, Josep Jorente, Ruy Pires de Oliveira, Vera Lúcia Gil-da-Silva-Lopes, Carolina Gama Vidoti-Nascimento, Mara Sanches Guaragna, Tarsis Paiva Vieira, Carlos Eduardo Steiner, Anne Caroline Barbosa Teixeira, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’ Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 33760 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |