Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Manon Reverdy"'
Autor:
Alexis Casciato, Lola Bianchi, Manon Reverdy, Fanny Joubert, Roman Delucenay-Clarke, Sandrine Parrot, Nélina Ramanantsoa, Eléonore Sizun, Boris Matrot, Christian Straus, Thomas Similowski, Florence Cayetanot, Laurence Bodineau
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionCongenital Central Hypoventilation Syndrome, a rare disease caused by PHOX2B mutation, is associated with absent or blunted CO2/H+ chemosensitivity due to the dysfunction of PHOX2B neurons of the retrotrapezoid nucleus. No pharmacological
Externí odkaz:
https://doaj.org/article/ba7758123ac442d6a1b7d1f4bbea29fb
Autor:
Oumou Goundiam, Elisabetta Marangoni, Manon Reverdy, Tatiana Popova, Dominique Stoppa-Lyonnet, Elodie Manié, Ivan Bièche, Alexandre Houy, Alexandre Eeckhoutte, Marc-Henri Stern, Anne Vincent-Salomon, François-Clément Bidard
Publikováno v:
Bioinformatics
Bioinformatics, Oxford University Press (OUP), 2020, 36 (12), pp.3888-3889. ⟨10.1093/bioinformatics/btaa261⟩
Bioinformatics, Oxford University Press (OUP), 2020, 36 (12), pp.3888-3889. ⟨10.1093/bioinformatics/btaa261⟩
Summary We introduce shallowHRD, a software tool to evaluate tumor homologous recombination deficiency (HRD) based on whole genome sequencing (WGS) at low coverage (shallow WGS or sWGS; ∼1X coverage). The tool, based on mining copy number alteratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::578f816b1e17f79af0ab9252de805b8f
https://pubmed.ncbi.nlm.nih.gov/32315385
https://pubmed.ncbi.nlm.nih.gov/32315385