Literature DB >> 30535305

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

Peng Zhang1, Benedetta Bigio1, Franck Rapaport1, Shen-Ying Zhang1, Jean-Laurent Casanova1,2,3,4,5, Laurent Abel1,2,3, Bertrand Boisson1,2,3, Yuval Itan6,7.   

Abstract

Summary: Next-generation sequencing (NGS) generates large amounts of genomic data and reveals about 20 000 genetic coding variants per individual studied. Several mutation damage prediction scores are available to prioritize variants, but there is currently no application to help investigators to determine the relevance of the candidate genes and variants quickly and visually from population genetics data and deleteriousness scores. Here, we present PopViz, a user-friendly, rapid, interactive, mobile-compatible webserver providing a gene-centric visualization of the variants of any human gene, with (i) population-specific minor allele frequencies from the gnomAD population genetic database; (ii) mutation damage prediction scores from CADD, EIGEN and LINSIGHT and (iii) amino-acid positions and protein domains. This application will be particularly useful in investigations of NGS data for new disease-causing genes and variants, by reinforcing or rejecting the plausibility of the candidate genes, and by selecting and prioritizing, the candidate variants for experimental testing. Availability and implementation: PopViz webserver is freely accessible from http://shiva.rockefeller.edu/PopViz/. Supplementary information: Supplementary data are available at Bioinformatics online.

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Mesh:

Year:  2018        PMID: 30535305      PMCID: PMC6289133          DOI: 10.1093/bioinformatics/bty536

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  22 in total

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Journal:  Genome Res       Date:  2002-06       Impact factor: 9.043

2.  Proteomics. Tissue-based map of the human proteome.

Authors:  Mathias Uhlén; Linn Fagerberg; Björn M Hallström; Cecilia Lindskog; Per Oksvold; Adil Mardinoglu; Åsa Sivertsson; Caroline Kampf; Evelina Sjöstedt; Anna Asplund; IngMarie Olsson; Karolina Edlund; Emma Lundberg; Sanjay Navani; Cristina Al-Khalili Szigyarto; Jacob Odeberg; Dijana Djureinovic; Jenny Ottosson Takanen; Sophia Hober; Tove Alm; Per-Henrik Edqvist; Holger Berling; Hanna Tegel; Jan Mulder; Johan Rockberg; Peter Nilsson; Jochen M Schwenk; Marica Hamsten; Kalle von Feilitzen; Mattias Forsberg; Lukas Persson; Fredric Johansson; Martin Zwahlen; Gunnar von Heijne; Jens Nielsen; Fredrik Pontén
Journal:  Science       Date:  2015-01-23       Impact factor: 47.728

3.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

4.  Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures.

Authors:  R Michael Sivley; Xiaoyi Dou; Jens Meiler; William S Bush; John A Capra
Journal:  Am J Hum Genet       Date:  2018-02-15       Impact factor: 11.025

Review 5.  Exome and genome sequencing for inborn errors of immunity.

Authors:  Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2016-10       Impact factor: 10.793

6.  Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.

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Journal:  Cell       Date:  2017-02-23       Impact factor: 66.850

7.  Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies.

Authors:  Jean-Laurent Casanova; Mary Ellen Conley; Stephen J Seligman; Laurent Abel; Luigi D Notarangelo
Journal:  J Exp Med       Date:  2014-10-13       Impact factor: 14.307

8.  Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data.

Authors:  Yi-Fei Huang; Brad Gulko; Adam Siepel
Journal:  Nat Genet       Date:  2017-03-13       Impact factor: 38.330

9.  UniProt: the universal protein knowledgebase.

Authors: 
Journal:  Nucleic Acids Res       Date:  2016-11-29       Impact factor: 16.971

10.  IRF4 haploinsufficiency in a family with Whipple's disease.

Authors:  Antoine Guérin; Gaspard Kerner; Nico Marr; Janet G Markle; Florence Fenollar; Natalie Wong; Sabri Boughorbel; Danielle T Avery; Cindy S Ma; Salim Bougarn; Matthieu Bouaziz; Vivien Béziat; Erika Della Mina; Carmen Oleaga-Quintas; Tomi Lazarov; Lisa Worley; Tina Nguyen; Etienne Patin; Caroline Deswarte; Rubén Martinez-Barricarte; Soraya Boucherit; Xavier Ayral; Sophie Edouard; Stéphanie Boisson-Dupuis; Vimel Rattina; Benedetta Bigio; Guillaume Vogt; Frédéric Geissmann; Lluis Quintana-Murci; Damien Chaussabel; Stuart G Tangye; Didier Raoult; Laurent Abel; Jacinta Bustamante; Jean-Laurent Casanova
Journal:  Elife       Date:  2018-03-14       Impact factor: 8.713

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  24 in total

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Authors:  Gaspard Kerner; Jérémie Rosain; Antoine Guérin; Ahmad Al-Khabaz; Carmen Oleaga-Quintas; Franck Rapaport; Michel J Massaad; Jing-Ya Ding; Taushif Khan; Fatima Al Ali; Mahbuba Rahman; Caroline Deswarte; Rubén Martinez-Barricarte; Raif S Geha; Valentine Jeanne-Julien; Diane Garcia; Chih-Yu Chi; Rui Yang; Manon Roynard; Bernhard Fleckenstein; Flore Rozenberg; Stéphanie Boisson-Dupuis; Cheng-Lung Ku; Yoann Seeleuthner; Vivien Béziat; Nico Marr; Laurent Abel; Waleed Al-Herz; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808

2.  Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.

Authors:  Luke Kowal; Jianhe Huang; Hongbin Luo; Jagmohan Singh; Adam E Snook; Jouni Uitto; Qiaoli Li
Journal:  J Invest Dermatol       Date:  2021-09-29       Impact factor: 8.551

3.  Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Authors:  Anna-Lena Neehus; Emmanuel Laplantine; Frederik Staels; Masato Ogishi; Yoann Seeleuthner; Franck Rapaport; Stéphanie Humblet-Baron; Adrian Liston; Laurent Abel; Bertrand Boisson; Jean-Laurent Casanova; András N Spaan; Keenan A Lacey; Erika Van Nieuwenhove; Maya Chrabieh; David Hum; Mélanie Migaud; Araksya Izmiryan; Lazaro Lorenzo; Tatiana Kochetkov; Dani A C Heesterbeek; Bart W Bardoel; Ashley L DuMont; Kerry Dobbs; Solenne Chardonnet; Søren Heissel; Timour Baslan; Peng Zhang; Rui Yang; Dusan Bogunovic; Herman F Wunderink; Pieter-Jan A Haas; Henrik Molina; Griet Van Buggenhout; Stanislas Lyonnet; Luigi D Notarangelo; Mikko R J Seppänen; Robert Weil; Gisela Seminario; Héctor Gomez-Tello; Carine Wouters; Mehrnaz Mesdaghi; Mohammad Shahrooei; Xavier Bossuyt; Erdal Sag; Rezan Topaloglu; Seza Ozen; Helen L Leavis; Maarten M J van Eijk; Liliana Bezrodnik; Lizbeth Blancas Galicia; Alain Hovnanian; Aude Nassif; Brigitte Bader-Meunier; Bénédicte Neven; Isabelle Meyts; Rik Schrijvers; Anne Puel; Jacinta Bustamante; Ivona Aksentijevich; Daniel L Kastner; Victor J Torres
Journal:  Science       Date:  2022-06-17       Impact factor: 63.714

4.  Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor.

Authors:  Fiona Poyer; Raúl Jimenez Heredia; Wolfgang Novak; Petra Zeitlhofer; Karin Nebral; Michael N Dworzak; Oskar A Haas; Kaan Boztug; Leo Kager
Journal:  Front Immunol       Date:  2022-06-24       Impact factor: 8.786

Review 5.  Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors:  Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal:  J Clin Immunol       Date:  2020-08-27       Impact factor: 8.317

6.  A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity.

Authors:  Peng Zhang; Aurélie Cobat; Yoon-Seung Lee; Yiming Wu; Cigdem Sevim Bayrak; Clémentine Boccon-Gibod; Daniela Matuozzo; Lazaro Lorenzo; Aayushee Jain; Soraya Boucherit; Louis Vallée; Burkhard Stüve; Stéphane Chabrier; Jean-Laurent Casanova; Laurent Abel; Shen-Ying Zhang; Yuval Itan
Journal:  Am J Hum Genet       Date:  2021-05-19       Impact factor: 11.025

7.  Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.

Authors:  Yusuke Imanaka; Maki Taniguchi; Takehiko Doi; Miyuki Tsumura; Rie Nagaoka; Maiko Shimomura; Takaki Asano; Reiko Kagawa; Yoko Mizoguchi; Shuhei Karakawa; Koji Arihiro; Kohsuke Imai; Tomohiro Morio; Jean-Laurent Casanova; Anne Puel; Osamu Ohara; Katsuhiko Kamei; Masao Kobayashi; Satoshi Okada
Journal:  J Clin Immunol       Date:  2021-02-08       Impact factor: 8.317

8.  Defects in LC3B2 and ATG4A underlie HSV2 meningitis and reveal a critical role for autophagy in antiviral defense in humans.

Authors:  Alon Schneider Hait; David Olagnier; Vanessa Sancho-Shimizu; Kristian Alsbjerg Skipper; Marie Helleberg; Simon Muller Larsen; Chiranjeevi Bodda; Liviu Ionut Moldovan; Fanghui Ren; Nanna-Sophie Brinck Andersen; Michelle M Thomsen; Mette Ratzer Freytag; Sathya Darmalinggam; Isobel Parkes; Darshana D Kadekar; Stine Hess Rahbek; Demi van der Horst; Lasse Sommer Kristensen; Kristina Eriksson; Jørgen Kjems; Serge Mostowy; Mette Christiansen; Jacob Giehm Mikkelsen; Christian Thomas Brandt; Søren R Paludan; Trine H Mogensen
Journal:  Sci Immunol       Date:  2020-12-11

9.  Essential role of autophagy in restricting poliovirus infection revealed by identification of an ATG7 defect in a poliomyelitis patient.

Authors:  Nanna-Sophie Brinck Andersen; Sofie Eg Jørgensen; Kristian Alsbjerg Skipper; Simon Müller Larsen; Johanna Heinz; Michelle Mølgaard Thomsen; Ensieh Farahani; Yujia Cai; Alon Schneider Hait; Lise Kay; Jacob Giehm Mikkelsen; Mariane Høgsbjerg Schleimann; Martin Kristian Thomsen; Søren R Paludan; Trine H Mogensen
Journal:  Autophagy       Date:  2020-10-20       Impact factor: 16.016

10.  Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Authors:  Joëlle Khourieh; Peng Zhang; Franck Rapaport; Qian Zhang; Anne Puel; Vivien Béziat; Jean-Laurent Casanova; Bertrand Boisson; Takaki Asano; András N Spaan; Juan Li; Wei-Te Lei; Simon J Pelham; David Hum; Maya Chrabieh; Ji Eun Han; Antoine Guérin; Joseph Mackie; Sudhir Gupta; Biman Saikia; Jamila E I Baghdadi; Ilham Fadil; Aziz Bousfiha; Tanwir Habib; Nico Marr; Luckshman Ganeshanandan; Jane Peake; Luke Droney; Andrew Williams; Fatih Celmeli; Nevin Hatipoglu; Tayfun Ozcelik; Capucine Picard; Laurent Abel; Stuart G Tangye; Stéphanie Boisson-Dupuis
Journal:  J Exp Med       Date:  2021-06-17       Impact factor: 14.307

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