Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

Autor: Yauy K; Institute for Advanced Biosciences, Centre de recherche UGA / Inserm U 1209 / CNRS UMR 5309, Grenoble, France; SeqOne Genomics, Montpellier, France. Electronic address: kevin.yauy@univ-grenoble-alpes.fr., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Baert-Desurmont S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Trost D; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Boughalem A; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Luscan A; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Costa JM; Laboratoire Cerba, Saint-Ouen-l'Aumône, France., Geromel V; Laboratoire Eurofins Biomnis, Lyon, France., Raymond L; Laboratoire Eurofins Biomnis, Lyon, France., Richard P; Unité Fonctionnelle de Cardiogénétique et Myogénétique, Centre de Génétique, Hôpitaux Universitaire Pitié Salpêtrière-Charles Foix, Paris, France., Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Broutin M; SeqOne Genomics, Montpellier, France., Lanos R; SeqOne Genomics, Montpellier, France., Fort Q; SeqOne Genomics, Montpellier, France., Cackowski S; Grenoble Institut Neurosciences, GIN, Inserm U1216, Université de Grenoble Alpes, Grenoble, France., Testard Q; Institute for Advanced Biosciences, Centre de recherche UGA / Inserm U 1209 / CNRS UMR 5309, Grenoble, France; Laboratoire Eurofins Biomnis, Lyon, France., Diallo A; SeqOne Genomics, Montpellier, France., Soirat N; SeqOne Genomics, Montpellier, France., Holder JM; SeqOne Genomics, Montpellier, France., Duforet-Frebourg N; SeqOne Genomics, Montpellier, France., Bouge AL; SeqOne Genomics, Montpellier, France., Beaumeunier S; SeqOne Genomics, Montpellier, France., Bertrand D; SeqOne Genomics, Montpellier, France., Audoux J; SeqOne Genomics, Montpellier, France., Genevieve D; Medical Genetic Department for Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France., Mesnard L; Soins Intensifs Néphrologiques et Rein Aigu, Hôpital Tenon, Assistance Publique des Hôpitaux de Paris, Paris, France; UMR_S1155, INSERM, Sorbonne Université, Paris, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Rouen, France., Thevenon J; Institute for Advanced Biosciences, Centre de recherche UGA / Inserm U 1209 / CNRS UMR 5309, Grenoble, France., Philippe N; SeqOne Genomics, Montpellier, France.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1316-1327. Date of Electronic Publication: 2022 Mar 17.

Transipedia.org: k-mer-based exploration of large RNA sequencing datasets and application to cancer data.

Autor: Bessière, Chloé, Xue, Haoliang, Guibert, Benoit, Boureux, Anthony, Rufflé, Florence, Viot, Julien, Chikhi, Rayan, Salson, Mikaël, Marchet, Camille, Commes, Thérèse, Gautheret, Daniel

Publikováno v: Genome Biology; 10/10/2024, Vol. 25 Issue 1, p1-16, 16p

Off-target piRNA gene silencing in Drosophila melanogaster rescued by a transposable element insertion.

Autor: Miller, Danny E.^1,2,3,4 (AUTHOR), Dorador, Ana P.⁵ (AUTHOR), Van Vaerenberghe, Kelley^5,6 (AUTHOR), Li, Angela⁵ (AUTHOR), Grantham, Emily K.⁵ (AUTHOR), Cerbin, Stefan⁵ (AUTHOR), Cummings, Celeste⁵ (AUTHOR), Barragan, Marilyn⁵ (AUTHOR), Egidy, Rhonda R.¹ (AUTHOR), Scott, Allison R.¹ (AUTHOR), Hall, Kate E.¹ (AUTHOR), Perera, Anoja¹ (AUTHOR), Gilliland, William D.⁷ (AUTHOR), Hawley, R. Scott^1,2 (AUTHOR), Blumenstiel, Justin P.⁵ (AUTHOR) jblumens@ku.edu

Publikováno v: PLoS Genetics. 2/21/2023, Vol. 18 Issue 2, p1-23. 23p.

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Autor: Torella, Annalaura^1,2 (AUTHOR), Zanobio, Mariateresa¹ (AUTHOR), Zeuli, Roberta¹ (AUTHOR), del Vecchio Blanco, Francesca¹ (AUTHOR), Savarese, Marco^1,3 (AUTHOR), Giugliano, Teresa¹ (AUTHOR), Garofalo, Arcomaria¹ (AUTHOR), Piluso, Giulio¹ (AUTHOR), Politano, Luisa⁴ (AUTHOR), Nigro, Vincenzo^1,2 (AUTHOR) vincenzo.nigro@unicampania.it

Publikováno v: PLoS ONE. 8/19/2020, Vol. 15 Issue 8, p1-13. 13p.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

Autor: Dominov, Janice A.¹ (AUTHOR) janice.dominov@umassmed.edu, Uyan, Özgün¹ (AUTHOR), McKenna‐Yasek, Diane¹ (AUTHOR), Nallamilli, Babi Ramesh Reddy² (AUTHOR), Kergourlay, Virginie³ (AUTHOR), Bartoli, Marc³ (AUTHOR), Levy, Nicolas^3,4 (AUTHOR), Hudson, Judith⁵ (AUTHOR), Evangelista, Teresinha⁶ (AUTHOR), Lochmuller, Hanns^6,7,8,9,10 (AUTHOR), Krahn, Martin^3,4 (AUTHOR), Rufibach, Laura¹¹ (AUTHOR), Hegde, Madhuri² (AUTHOR), Brown, Robert H.¹ (AUTHOR)

Publikováno v: Annals of Clinical & Translational Neurology. Apr2019, Vol. 6 Issue 4, p642-654. 13p.