Literature DB >> 33600011

MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.

Alida Palmisano1,2, Suleyman Vural1, Yingdong Zhao1, Dmitriy Sonkin1.   

Abstract

Splice site variants may lead to transcript alterations, causing exons inclusion, exclusion, truncation, or intron retention. Interpreting the consequences of a specific splice site variant is not straightforward, especially if the variant is located outside of the canonical splice sites. We developed MutSpliceDB: https://brb.nci.nih.gov/splicing, a public resource to facilitate the interpretation of splice sites variants effects on splicing based on manually reviewed RNA-seq BAM files from samples with splice site variants. Published 2021. This article is a U.S. Government work and is in the public domain in the USA.

Entities:  

Keywords:  MutSpliceDB; RNA-seq; splice sites; splice variants; splicing

Mesh:

Substances:

Year:  2021        PMID: 33600011     DOI: 10.1002/humu.24185

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  2 in total

1.  Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

Authors:  Peter Horak; Malachi Griffith; Arpad M Danos; Beth A Pitel; Subha Madhavan; Xuelu Liu; Cynthia Chow; Heather Williams; Leigh Carmody; Lisa Barrow-Laing; Damian Rieke; Simon Kreutzfeldt; Albrecht Stenzinger; David Tamborero; Manuela Benary; Padma Sheila Rajagopal; Cristiane M Ida; Harry Lesmana; Laveniya Satgunaseelan; Jason D Merker; Michael Y Tolstorukov; Paulo Vidal Campregher; Jeremy L Warner; Shruti Rao; Maya Natesan; Haolin Shen; Jeffrey Venstrom; Somak Roy; Kayoko Tao; Rashmi Kanagal-Shamanna; Xinjie Xu; Deborah I Ritter; Kym Pagel; Kilannin Krysiak; Adrian Dubuc; Yassmine M Akkari; Xuan Shirley Li; Jennifer Lee; Ian King; Gordana Raca; Alex H Wagner; Marylin M Li; Sharon E Plon; Shashikant Kulkarni; Obi L Griffith; Debyani Chakravarty; Dmitriy Sonkin
Journal:  Genet Med       Date:  2022-01-29       Impact factor: 8.864

2.  Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Authors:  Kuokuo Li; Tengfei Luo; Yan Zhu; Yuanfeng Huang; An Wang; Di Zhang; Lijie Dong; Yujian Wang; Rui Wang; Dongdong Tang; Zhen Yu; Qunshan Shen; Mingrong Lv; Zhengbao Ling; Zhenghuan Fang; Jing Yuan; Bin Li; Kun Xia; Xiaojin He; Jinchen Li; Guihu Zhao
Journal:  Nucleic Acids Res       Date:  2022-08-22       Impact factor: 19.160

  2 in total

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