Literature DB >> 33161418

MobiDetails: online DNA variants interpretation.

David Baux1, Charles Van Goethem2, Olivier Ardouin3, Thomas Guignard4, Anne Bergougnoux2, Michel Koenig2, Anne-Françoise Roux2.   

Abstract

MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in the context of molecular diagnosis. It brings together in a single tool many sources of data, such as population genetics, various kinds of predictors, Human Genome Variation Society (HGVS) nomenclatures, curated databases, and access to various annotations. Accurate interpretation of DNA variants is crucial and can impact the patient care or have familial outcomes (prenatal diagnosis). Its importance will increase in the coming years with the expansion of the personalized medicine. MobiDetails is specifically designed to help with this task. Exonic or intronic substitutions and small insertions/deletions related to more than 18,000 human genes are easily submitted and annotated in real-time. It is a responsive website that can be accessed using mobiles or tablets during medical staff meetings. MobiDetails is based on publicly available resources, does not include any specific data on patients or phenotypes, and is freely available for academic use at https://mobidetails.iurc.montp.inserm.fr/MD/ .

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Year:  2020        PMID: 33161418      PMCID: PMC7868358          DOI: 10.1038/s41431-020-00755-z

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  7 in total

1.  Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants.

Authors:  Jordan Teoli; Vincent Mezzarobba; Lucie Renault; Delphine Mallet; Hervé Lejeune; Pierre Chatelain; Frédérique Tixier; Marc Nicolino; Noël Peretti; Sandrine Giscard D'estaing; Béatrice Cuzin; Frédérique Dijoud; Florence Roucher-Boulez; Ingrid Plotton
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-30       Impact factor: 5.555

2.  Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.

Authors:  Sébastien Küry; Frédéric Ebstein; Alice Mollé; Thomas Besnard; Ming-Kang Lee; Virginie Vignard; Tiphaine Hery; Mathilde Nizon; Grazia M S Mancini; Jacques C Giltay; Benjamin Cogné; Kirsty McWalter; Wallid Deb; Hagar Mor-Shaked; Hong Li; Rhonda E Schnur; Ingrid M Wentzensen; Anne-Sophie Denommé-Pichon; Cynthia Fourgeux; Frans W Verheijen; Eva Faurie; Rachel Schot; Cathy A Stevens; Daphne J Smits; Eileen Barr; Ruth Sheffer; Jonathan A Bernstein; Chandler L Stimach; Eliana Kovitch; Vandana Shashi; Kelly Schoch; Whitney Smith; Richard H van Jaarsveld; Anna C E Hurst; Kirstin Smith; Evan H Baugh; Suzanne G Bohm; Emílie Vyhnálková; Lukáš Ryba; Capucine Delnatte; Juanita Neira; Dominique Bonneau; Annick Toutain; Jill A Rosenfeld; Séverine Audebert-Bellanger; Brigitte Gilbert-Dussardier; Sylvie Odent; Frédéric Laumonnier; Seth I Berger; Ann C M Smith; Franck Bourdeaut; Marc-Henri Stern; Richard Redon; Elke Krüger; Raphaël Margueron; Stéphane Bézieau; Jeremie Poschmann; Bertrand Isidor
Journal:  Am J Hum Genet       Date:  2022-01-19       Impact factor: 11.043

3.  The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Authors:  Ivo F A C Fokkema; Mark Kroon; Julia A López Hernández; Daan Asscheman; Ivar Lugtenburg; Jerry Hoogenboom; Johan T den Dunnen
Journal:  Eur J Hum Genet       Date:  2021-09-15       Impact factor: 5.351

4.  Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

Authors:  Aidin Foroutan; Sadegheh Haghshenas; Pratibha Bhai; Michael A Levy; Jennifer Kerkhof; Haley McConkey; Marcello Niceta; Andrea Ciolfi; Lucia Pedace; Evelina Miele; David Genevieve; Solveig Heide; Mariëlle Alders; Giuseppe Zampino; Giuseppe Merla; Mélanie Fradin; Eric Bieth; Dominique Bonneau; Klaus Dieterich; Patricia Fergelot; Elise Schaefer; Laurence Faivre; Antonio Vitobello; Silvia Maitz; Rita Fischetto; Cristina Gervasini; Maria Piccione; Ingrid van de Laar; Marco Tartaglia; Bekim Sadikovic; Anne-Sophie Lebre
Journal:  Int J Mol Sci       Date:  2022-02-05       Impact factor: 5.923

5.  New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.

Authors:  B Allegrini; S Jedele; L David Nguyen; M Mignotet; R Rapetti-Mauss; C Etchebest; O Fenneteau; A Loubat; A Boutet; C Thomas; J Durin; A Petit; C Badens; L Garçon; L Da Costa; H Guizouarn
Journal:  Front Physiol       Date:  2022-08-08       Impact factor: 4.755

6.  SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Authors:  Paola Ruffo; Benedetta Perrone; Francesca Luisa Conforti
Journal:  Genes (Basel)       Date:  2022-03-18       Impact factor: 4.096

7.  The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Authors:  Luke Mansard; David Baux; Christel Vaché; Catherine Blanchet; Isabelle Meunier; Marjolaine Willems; Valérie Faugère; Corinne Baudoin; Melody Moclyn; Julie Bianchi; Helene Dollfus; Brigitte Gilbert-Dussardier; Delphine Dupin-Deguine; Dominique Bonneau; Isabelle Drumare; Sylvie Odent; Xavier Zanlonghi; Mireille Claustres; Michel Koenig; Vasiliki Kalatzis; Anne-Françoise Roux
Journal:  Int J Mol Sci       Date:  2021-12-10       Impact factor: 5.923

  7 in total

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