Literature DB >> 26820543

The mutation significance cutoff: gene-level thresholds for variant predictions.

Yuval Itan1, Lei Shang1, Bertrand Boisson1,2,3, Michael J Ciancanelli1, Janet G Markle1, Ruben Martinez-Barricarte1, Eric Scott4, Ishaan Shah1, Peter D Stenson5, Joseph Gleeson4,6, David N Cooper5, Lluis Quintana-Murci7,8, Shen-Ying Zhang1,2,3, Laurent Abel1,2,3, Jean-Laurent Casanova1,2,3,6,9.   

Abstract

Entities:  

Mesh:

Year:  2016        PMID: 26820543      PMCID: PMC4980758          DOI: 10.1038/nmeth.3739

Source DB:  PubMed          Journal:  Nat Methods        ISSN: 1548-7091            Impact factor:   28.547


× No keyword cloud information.
  9 in total

1.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.

Authors:  Prateek Kumar; Steven Henikoff; Pauline C Ng
Journal:  Nat Protoc       Date:  2009-06-25       Impact factor: 13.491

2.  The human gene damage index as a gene-level approach to prioritizing exome variants.

Authors:  Yuval Itan; Lei Shang; Bertrand Boisson; Etienne Patin; Alexandre Bolze; Marcela Moncada-Vélez; Eric Scott; Michael J Ciancanelli; Fabien G Lafaille; Janet G Markle; Ruben Martinez-Barricarte; Sarah Jill de Jong; Xiao-Fei Kong; Patrick Nitschke; Aziz Belkadi; Jacinta Bustamante; Anne Puel; Stéphanie Boisson-Dupuis; Peter D Stenson; Joseph G Gleeson; David N Cooper; Lluis Quintana-Murci; Jean-Michel Claverie; Shen-Ying Zhang; Laurent Abel; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2015-10-19       Impact factor: 11.205

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.  Genic intolerance to functional variation and the interpretation of personal genomes.

Authors:  Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

5.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

Review 6.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Shaw; Andrew Phillips; David N Cooper
Journal:  Hum Genet       Date:  2014-01       Impact factor: 4.132

7.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

8.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

9.  A framework for the interpretation of de novo mutation in human disease.

Authors:  Kaitlin E Samocha; Elise B Robinson; Stephan J Sanders; Christine Stevens; Aniko Sabo; Lauren M McGrath; Jack A Kosmicki; Karola Rehnström; Swapan Mallick; Andrew Kirby; Dennis P Wall; Daniel G MacArthur; Stacey B Gabriel; Mark DePristo; Shaun M Purcell; Aarno Palotie; Eric Boerwinkle; Joseph D Buxbaum; Edwin H Cook; Richard A Gibbs; Gerard D Schellenberg; James S Sutcliffe; Bernie Devlin; Kathryn Roeder; Benjamin M Neale; Mark J Daly
Journal:  Nat Genet       Date:  2014-08-03       Impact factor: 38.330

  9 in total
  136 in total

1.  A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Authors:  Carmen Oleaga-Quintas; Caroline Deswarte; Marcela Moncada-Vélez; Ayse Metin; Indumathi Krishna Rao; Saliha Kanık-Yüksek; Alejandro Nieto-Patlán; Antoine Guérin; Belgin Gülhan; Savita Murthy; Aslınur Özkaya-Parlakay; Laurent Abel; Rubén Martínez-Barricarte; Rebeca Pérez de Diego; Stéphanie Boisson-Dupuis; Xiao-Fei Kong; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Hum Mol Genet       Date:  2018-11-15       Impact factor: 6.150

2.  Inherited human IFN-γ deficiency underlies mycobacterial disease.

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

3.  Defective interferon priming and impaired antiviral responses in a patient with an IRF7 variant and severe influenza.

Authors:  Michelle M Thomsen; Sofie E Jørgensen; Hans Henrik Gad; Merete Storgaard; Jakob Gjedsted; Mette Christiansen; Rune Hartmann; Trine H Mogensen
Journal:  Med Microbiol Immunol       Date:  2019-06-06       Impact factor: 3.402

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

Authors:  Peng Zhang; Benedetta Bigio; Franck Rapaport; Shen-Ying Zhang; Jean-Laurent Casanova; Laurent Abel; Bertrand Boisson; Yuval Itan
Journal:  Bioinformatics       Date:  2018-12-15       Impact factor: 6.937

5.  Primary cilia defects causing mitral valve prolapse.

Authors:  Katelynn A Toomer; Mengyao Yu; Diana Fulmer; Lilong Guo; Kelsey S Moore; Reece Moore; Ka'la D Drayton; Janiece Glover; Neal Peterson; Sandra Ramos-Ortiz; Alex Drohan; Breiona J Catching; Rebecca Stairley; Andy Wessels; Joshua H Lipschutz; Francesca N Delling; Xavier Jeunemaitre; Christian Dina; Ryan L Collins; Harrison Brand; Michael E Talkowski; Federica Del Monte; Rupak Mukherjee; Alexander Awgulewitsch; Simon Body; Gary Hardiman; E Starr Hazard; Willian A da Silveira; Baolin Wang; Maire Leyne; Ronen Durst; Roger R Markwald; Solena Le Scouarnec; Albert Hagege; Thierry Le Tourneau; Peter Kohl; Eva A Rog-Zielinska; Patrick T Ellinor; Robert A Levine; David J Milan; Jean-Jacques Schott; Nabila Bouatia-Naji; Susan A Slaugenhaupt; Russell A Norris
Journal:  Sci Transl Med       Date:  2019-05-22       Impact factor: 17.956

6.  Efficient SNP editing in haploid human pluripotent stem cells.

Authors:  Lauren Zakarin Safier; Michael V Zuccaro; Dietrich Egli
Journal:  J Assist Reprod Genet       Date:  2020-03-11       Impact factor: 3.412

7.  Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.

Authors:  Güven Toksoy; Dilek Uludağ Alkaya; Gülendam Bagirova; Şahin Avcı; Agharza Aghayev; Nilay Günes; Umut Altunoğlu; Yasemin Alanay; Seher Başaran; Ezgi G Berkay; Birsen Karaman; Tiraje T Celkan; Hilmi Apak; Hülya Kayserili; Beyhan Tüysüz; Zehra O Uyguner
Journal:  Mol Syndromol       Date:  2020-09-23

8.  Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Authors:  Scott B Drutman; Filomeen Haerynck; Franklin L Zhong; David Hum; Nicholas J Hernandez; Serkan Belkaya; Franck Rapaport; Sarah Jill de Jong; David Creytens; Simon J Tavernier; Katrien Bonte; Sofie De Schepper; Jutte van der Werff Ten Bosch; Lazaro Lorenzo-Diaz; Andy Wullaert; Xavier Bossuyt; Gérard Orth; Vincent R Bonagura; Vivien Béziat; Laurent Abel; Emmanuelle Jouanguy; Bruno Reversade; Jean-Laurent Casanova
Journal:  Proc Natl Acad Sci U S A       Date:  2019-09-04       Impact factor: 11.205

9.  The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome.

Authors:  Matthew Dapas; Andrea Dunaif
Journal:  Curr Opin Endocr Metab Res       Date:  2020-04-03

10.  Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.

Authors:  Liming Mao; Atsushi Kitani; Morgan Similuk; Andrew J Oler; Lindsey Albenberg; Judith Kelsen; Atiye Aktay; Martha Quezado; Michael Yao; Kim Montgomery-Recht; Ivan J Fuss; Warren Strober
Journal:  J Clin Invest       Date:  2018-03-26       Impact factor: 14.808

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.