Literature DB >> 35687855

An Active Learning Framework Improves Tumor Variant Interpretation.

Alexandra M Blee1, Bian Li2, Turner Pecen3, Jens Meiler4,5, Zachary D Nagel3, John A Capra6, Walter J Chazin1,4.   

Abstract

SIGNIFICANCE: A novel machine learning approach predicts the impact of tumor mutations on cellular phenotypes, overcomes limited training data, minimizes costly functional validation, and advances efforts to implement cancer precision medicine. ©2022 American Association for Cancer Research.

Entities:  

Mesh：

Year:  2022        PMID： 35687855      PMCID： PMC9357215          DOI： 10.1158/0008-5472.CAN-21-3798

Source DB:  PubMed          Journal:  Cancer Res        ISSN： 0008-5472            Impact factor:   13.312


  44 in total

Review 1.  Nucleotide excision repair in eukaryotes.

Authors:  Orlando D Schärer
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-10-01       Impact factor: 10.005

2.  Multiplexed DNA repair assays for multiple lesions and multiple doses via transcription inhibition and transcriptional mutagenesis.

Authors:  Zachary D Nagel; Carrie M Margulies; Isaac A Chaim; Siobhan K McRee; Patrizia Mazzucato; Anwaar Ahmad; Ryan P Abo; Vincent L Butty; Anthony L Forget; Leona D Samson
Journal:  Proc Natl Acad Sci U S A       Date:  2014-04-22       Impact factor: 11.205

3.  Structural characterization of the redefined DNA-binding domain of human XPA.

Authors:  Fu-Ming Lian; Xiangwei Yang; Wancai Yang; Yong-Liang Jiang; Chengmin Qian
Journal:  Biochem Biophys Res Commun       Date:  2019-05-12       Impact factor: 3.575

Review 4.  From variant to function in human disease genetics.

Authors:  Tuuli Lappalainen; Daniel G MacArthur
Journal:  Science       Date:  2021-09-23       Impact factor: 47.728

5.  Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.

Authors:  I Satokata; K Tanaka; Y Okada
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

6.  New structural insights into the recognition of undamaged splayed-arm DNA with a single pair of non-complementary nucleotides by human nucleotide excision repair protein XPA.

Authors:  Fu-Ming Lian; Xiangwei Yang; Yong-Liang Jiang; Feng Yang; Changlin Li; Wancai Yang; Chengmin Qian
Journal:  Int J Biol Macromol       Date:  2020-01-18       Impact factor: 6.953

7.  dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs.

Authors:  Xiaoming Liu; Chang Li; Chengcheng Mou; Yibo Dong; Yicheng Tu
Journal:  Genome Med       Date:  2020-12-02       Impact factor: 11.117

Review 8.  Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.

Authors:  Gregory McInnes; Andrew G Sharo; Megan L Koleske; Julia E H Brown; Matthew Norstad; Aashish N Adhikari; Sheng Wang; Steven E Brenner; Jodi Halpern; Barbara A Koenig; David C Magnus; Renata C Gallagher; Kathleen M Giacomini; Russ B Altman
Journal:  Am J Hum Genet       Date:  2021-04-01       Impact factor: 11.025

9.  Redefining the DNA-binding domain of human XPA.

Authors:  Norie Sugitani; Steven M Shell; Sarah E Soss; Walter J Chazin
Journal:  J Am Chem Soc       Date:  2014-07-24       Impact factor: 15.419

10.  Highly accurate protein structure prediction with AlphaFold.

Authors:  John Jumper; Richard Evans; Alexander Pritzel; Tim Green; Michael Figurnov; Olaf Ronneberger; Kathryn Tunyasuvunakool; Russ Bates; Augustin Žídek; Anna Potapenko; Alex Bridgland; Clemens Meyer; Simon A A Kohl; Andrew J Ballard; Andrew Cowie; Bernardino Romera-Paredes; Stanislav Nikolov; Rishub Jain; Demis Hassabis; Jonas Adler; Trevor Back; Stig Petersen; David Reiman; Ellen Clancy; Michal Zielinski; Martin Steinegger; Michalina Pacholska; Tamas Berghammer; Sebastian Bodenstein; David Silver; Oriol Vinyals; Andrew W Senior; Koray Kavukcuoglu; Pushmeet Kohli
Journal:  Nature       Date:  2021-07-15       Impact factor: 49.962
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