Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay-Reference-Cited by-同舟云学术

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

Published:2019-09 Issue:9 Volume:40 Page:1280-1291
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Shigaki Dustin¹,Adato Orit²,Adhikari Aashish N.³^ORCID,Dong Shengcheng⁴^ORCID,Hawkins‐Hooker Alex⁵,Inoue Fumitaka⁶,Juven‐Gershon Tamar²,Kenlay Henry⁵,Martin Beth⁷,Patra Ayoti⁸,Penzar Dmitry D.⁹¹⁰,Schubach Max¹¹¹²,Xiong Chenling⁶,Yan Zhongxia¹²,Boyle Alan P.⁴,Kreimer Anat⁶¹³,Kulakovskiy Ivan V.⁹¹⁰¹⁴¹⁵^ORCID,Reid John⁵¹⁶^ORCID,Unger Ron²^ORCID,Yosef Nir¹³,Shendure Jay⁷,Ahituv Nadav⁶^ORCID,Kircher Martin⁷¹¹¹²,Beer Michael A.¹⁸^ORCID

Affiliation:

1. Department of Biomedical EngineeringJohns Hopkins University Baltimore Maryland

2. The Mina & Everard Goodman Faculty of Life SciencesBar‐Ilan University Ramat‐Gan Israel

3. Department of Plant and Microbial BiologyUniversity of California Berkeley California

4. Department of Computational Medicine and Bioinformatics and Department of Human GeneticsUniversity of Michigan Ann Arbor Michigan

5. MRC Biostatistics UnitUniversity of Cambridge UK

6. Department of Bioengineering and Therapeutic Sciences and Institute for Human GeneticsUniversity of California San Francisco San Francisco California

7. Department of Genome SciencesUniversity of Washington Seattle Washington

8. McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University Baltimore Maryland

9. Vavilov Institute of General GeneticsRussian Academy of Sciences Moscow Russia

10. School of Bioengineering and BioinformaticsLomonosov Moscow State University Moscow Russia

11. Berlin Institute of Health (BIH) Berlin Germany

12. Charité – Universitätsmedizin Berlin Berlin Germany

13. Department of Electrical Engineering and Computer Science and Center for Computational BiologyUniversity of California Berkeley California

14. Institute of Mathematical Problems of Biology, Keldysh Institute of Applied Mathematics of Russian Academy of Sciences Pushchino Russia

15. Engelhardt Institute of Molecular Biology, Russian Academy of Sciences Moscow Russia

16. Alan Turing Institute, British Library London UK

Funder

National Human Genome Research Institute

Russian Foundation for Basic Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23797

Reference32 articles.

1. Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning

2. Predicting enhancer activity and variant impact using gkm‐SVM

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5. Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

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