Literature DB >> 34977675

miRMut: Annotation of mutations in miRNA genes from human whole-exome or whole-genome sequencing.

Martyna O Urbanek-Trzeciak1, Piotr Kozlowski1, Paulina Galka-Marciniak1.   

Abstract

Here, we present the miRMut protocol to annotate mutations found in miRNA genes based on whole-exome sequencing (WES) or whole-genome sequencing (WGS) results. The pipeline assigns mutation characteristics, including miRNA gene IDs (miRBase and MirGeneDB), mutation localization within the miRNA precursor structure, potential RNA-binding motif disruption, the ascription of mutation according to Human Genome Variation Society (HGVS) nomenclature, and miRNA gene characteristics, such as miRNA gene confidence and miRNA arm balance. The pipeline includes creating tabular and graphical summaries. For complete details on the use and execution of this protocol, please refer to Urbanek-Trzeciak et al. (2020).
© 2021 The Author(s).

Entities:  

Keywords:  Bioinformatics; Cancer; Genetics; High Throughput Screening; Molecular Biology; Sequence analysis; Systems biology

Mesh:

Substances:

Year:  2021        PMID: 34977675      PMCID: PMC8686061          DOI: 10.1016/j.xpro.2021.101023

Source DB:  PubMed          Journal:  STAR Protoc        ISSN: 2666-1667


  17 in total

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Authors:  Bastian Fromm; Tyler Billipp; Liam E Peck; Morten Johansen; James E Tarver; Benjamin L King; James M Newcomb; Lorenzo F Sempere; Kjersti Flatmark; Eivind Hovig; Kevin J Peterson
Journal:  Annu Rev Genet       Date:  2015-10-14       Impact factor: 16.830

Review 2.  Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.

Authors:  Khader Shameer; Lokesh P Tripathi; Krishna R Kalari; Joel T Dudley; Ramanathan Sowdhamini
Journal:  Brief Bioinform       Date:  2015-10-22       Impact factor: 11.622

3.  ViennaRNA Package 2.0.

Authors:  Ronny Lorenz; Stephan H Bernhart; Christian Höner Zu Siederdissen; Hakim Tafer; Christoph Flamm; Peter F Stadler; Ivo L Hofacker
Journal:  Algorithms Mol Biol       Date:  2011-11-24       Impact factor: 1.405

4.  miRNAmotif-A Tool for the Prediction of Pre-miRNA⁻Protein Interactions.

Authors:  Martyna O Urbanek-Trzeciak; Edyta Jaworska; Wlodzimierz J Krzyzosiak
Journal:  Int J Mol Sci       Date:  2018-12-17       Impact factor: 5.923

5.  miRBase: from microRNA sequences to function.

Authors:  Ana Kozomara; Maria Birgaoanu; Sam Griffiths-Jones
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

6.  Somatic Mutations in miRNA Genes in Lung Cancer-Potential Functional Consequences of Non-Coding Sequence Variants.

Authors:  Paulina Galka-Marciniak; Martyna Olga Urbanek-Trzeciak; Paulina Maria Nawrocka; Agata Dutkiewicz; Maciej Giefing; Marzena Anna Lewandowska; Piotr Kozlowski
Journal:  Cancers (Basel)       Date:  2019-06-08       Impact factor: 6.639

7.  Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.

Authors:  Esther Rheinbay; Morten Muhlig Nielsen; Federico Abascal; Jeremiah A Wala; Ofer Shapira; Grace Tiao; Henrik Hornshøj; Julian M Hess; Randi Istrup Juul; Ziao Lin; Lars Feuerbach; Radhakrishnan Sabarinathan; Tobias Madsen; Jaegil Kim; Loris Mularoni; Shimin Shuai; Andrés Lanzós; Carl Herrmann; Yosef E Maruvka; Ciyue Shen; Samirkumar B Amin; Pratiti Bandopadhayay; Johanna Bertl; Keith A Boroevich; John Busanovich; Joana Carlevaro-Fita; Dimple Chakravarty; Calvin Wing Yiu Chan; David Craft; Priyanka Dhingra; Klev Diamanti; Nuno A Fonseca; Abel Gonzalez-Perez; Qianyun Guo; Mark P Hamilton; Nicholas J Haradhvala; Chen Hong; Keren Isaev; Todd A Johnson; Malene Juul; Andre Kahles; Abdullah Kahraman; Youngwook Kim; Jan Komorowski; Kiran Kumar; Sushant Kumar; Donghoon Lee; Kjong-Van Lehmann; Yilong Li; Eric Minwei Liu; Lucas Lochovsky; Keunchil Park; Oriol Pich; Nicola D Roberts; Gordon Saksena; Steven E Schumacher; Nikos Sidiropoulos; Lina Sieverling; Nasa Sinnott-Armstrong; Chip Stewart; David Tamborero; Jose M C Tubio; Husen M Umer; Liis Uusküla-Reimand; Claes Wadelius; Lina Wadi; Xiaotong Yao; Cheng-Zhong Zhang; Jing Zhang; James E Haber; Asger Hobolth; Marcin Imielinski; Manolis Kellis; Michael S Lawrence; Christian von Mering; Hidewaki Nakagawa; Benjamin J Raphael; Mark A Rubin; Chris Sander; Lincoln D Stein; Joshua M Stuart; Tatsuhiko Tsunoda; David A Wheeler; Rory Johnson; Jüri Reimand; Mark Gerstein; Ekta Khurana; Peter J Campbell; Núria López-Bigas; Joachim Weischenfeldt; Rameen Beroukhim; Iñigo Martincorena; Jakob Skou Pedersen; Gad Getz
Journal:  Nature       Date:  2020-02-05       Impact factor: 49.962

8.  MirGeneDB 2.0: the metazoan microRNA complement.

Authors:  Bastian Fromm; Diana Domanska; Eirik Høye; Vladimir Ovchinnikov; Wenjing Kang; Ernesto Aparicio-Puerta; Morten Johansen; Kjersti Flatmark; Anthony Mathelier; Eivind Hovig; Michael Hackenberg; Marc R Friedländer; Kevin J Peterson
Journal:  Nucleic Acids Res       Date:  2020-01-08       Impact factor: 16.971

9.  Somatic mutation in noncoding regions: The sound of silence.

Authors:  Hua Tan
Journal:  EBioMedicine       Date:  2020-10-20       Impact factor: 8.143

10.  A survey of tools for variant analysis of next-generation genome sequencing data.

Authors:  Stephan Pabinger; Andreas Dander; Maria Fischer; Rene Snajder; Michael Sperk; Mirjana Efremova; Birgit Krabichler; Michael R Speicher; Johannes Zschocke; Zlatko Trajanoski
Journal:  Brief Bioinform       Date:  2013-01-21       Impact factor: 11.622

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  1 in total

1.  Mutations in the miR-142 gene are not common in myeloproliferative neoplasms.

Authors:  Paulina Galka-Marciniak; Zuzanna Kanduła; Adrian Tire; Wladyslaw Wegorek; Kinga Gwozdz-Bak; Luiza Handschuh; Maciej Giefing; Krzysztof Lewandowski; Piotr Kozlowski
Journal:  Sci Rep       Date:  2022-06-28       Impact factor: 4.996

  1 in total

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