Population sequencing data reveal a compendium of mutational processes in the human germ line-Reference-Cited by-同舟云学术

Population sequencing data reveal a compendium of mutational processes in the human germ line

Published:2021-08-27 Issue:6558 Volume:373 Page:1030-1035
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Seplyarskiy Vladimir B.¹²^ORCID,Soldatov Ruslan A.²^ORCID,Koch Evan¹²^ORCID,McGinty Ryan J.¹²^ORCID,Goldmann Jakob M.³^ORCID,Hernandez Ryan D.⁴⁵^ORCID,Barnes Kathleen⁶,Correa Adolfo⁷⁸⁹^ORCID,Burchard Esteban G.⁵¹⁰^ORCID,Ellinor Patrick T.¹¹^ORCID,McGarvey Stephen T.¹²¹³¹⁴^ORCID,Mitchell Braxton D.¹⁵¹⁶¹⁷^ORCID,Vasan Ramachandran S.¹⁸¹⁹^ORCID,Redline Susan²⁰²¹^ORCID,Silverman Edwin²²^ORCID,Weiss Scott T.²⁰²¹²²^ORCID,Arnett Donna K.²³^ORCID,Blangero John²⁴²⁵,Boerwinkle Eric²⁶²⁷,He Jiang²⁸²⁹^ORCID,Montgomery Courtney³⁰^ORCID,Rao D. C.³¹,Rotter Jerome I.³²^ORCID,Taylor Kent D.³²^ORCID,Brody Jennifer A.³³^ORCID,Chen Yii-Der Ida³⁴,de las Fuentes Lisa³¹³⁵^ORCID,Hwu Chii-Min³⁶^ORCID,Rich Stephen S.³⁷^ORCID,Manichaikul Ani W.³⁷^ORCID,Mychaleckyj Josyf C.³⁷^ORCID,Palmer Nicholette D.³⁸^ORCID,Smith Jennifer A.³⁹⁴⁰^ORCID,Kardia Sharon L. R.⁴⁰,Peyser Patricia A.⁴⁰^ORCID,Bielak Lawrence F.⁴⁰,O’Connor Timothy D.¹⁶⁴¹⁴²,Emery Leslie S.⁴³^ORCID,Gilissen Christian³^ORCID,Wong Wendy S. W.⁴⁴^ORCID,Kharchenko Peter V.²^ORCID,Sunyaev Shamil¹²^ORCID, ,

Affiliation:

1. Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.

2. Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.

3. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.

4. Quantitative Life Sciences, McGill University, Montreal, QC, Canada.

5. Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.

6. Department of Medicine, University of Colorado Denver, Aurora, CO 80045, USA.

7. Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.

8. Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.

9. Department of Population Health Science, University of Mississippi Medical Center, Jackson, MS, USA.

10. Department of Medicine, University of California, San Francisco, CA, USA.

11. Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.

12. International Health Institute, Brown University, Providence, RI, USA.

13. Department of Epidemiology, Brown University, Providence, RI, USA.

14. Department of Anthropology, Brown University, Providence, RI, USA.

15. Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.

16. Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.

17. Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD, USA.

18. Department of Medicine, Boston University School of Medicine, Boston, MA, USA.

19. Framingham Heart Study, Framingham, MA, USA.

20. Department of Medicine, Harvard Medical School, Boston, MA, USA.

21. Department of Medicine, Brigham and Women’s Hospital, Boston, MA, USA.

22. Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital, Boston, MA, USA.

23. Department of Epidemiology, University of Kentucky, Lexington, KY, USA.

24. Department of Human Genetics, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.

25. South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley School of Medicine, Brownsville, TX, USA.

26. University of Texas Health Science Center at Houston, Houston, TX, USA.

27. Baylor College of Medicine Human Genome Sequencing Center, Houston, TX, USA.

28. Department of Epidemiology, Tulane University, New Orleans, LA, USA.

29. Tulane University Translational Science Institute, Tulane University, New Orleans, LA , USA.

30. Division of Genomics and Data Science, Department of Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.

31. Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA.

32. The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.

33. Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.

34. Department of Pediatrics, The Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.

35. Department of Medicine, Cardiovascular Division, Washington University School of Medicine, St. Louis, MO, USA.

36. National Yang-Ming University School of Medicine, Taipei, Taiwan.

37. Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.

38. Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.

39. Department of Epidemiology, School of Public Health, University of Michigan, 1415 Washington Heights, Ann Arbor, MI 48109-2029, USA.

40. Survey Research Center, Institute for Social Research, University of Michigan 426 Thompson St, Room Ann Arbor, MI 48104, USA.

41. Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA.

42. University of Maryland Marlene and Stewart Greenebaum Comprehensive Cancer Center, Baltimore, MD, USA.

43. University of Washington Department of Biostatistics, Seattle, WA 98195, USA.

44. Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, VA, USA.

Abstract

Gauging the spectrum of human mutations It has become increasing clear that mutation affects phenotypic variation and disease risk across humans. However, there are many different types of mutation. Seplyarskiy et al . applied a matrix factorization method to large human genomic datasets to identify germline mutational processes in an unsupervised manner. From this survey, nine robust mutational components were identified and specific mechanisms generating seven of these processes are proposed from correlations with genomic features. These results confirm and improve upon our understanding of mutational processes and reveal likely mechanisms of mutation in the human genome. —LMZ

Funder

National Institutes of Health

NHLBI

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference45 articles.

1. Eukaryotic Mismatch Repair in Relation to DNA Replication

2. Understanding nucleotide excision repair and its roles in cancer and ageing

3. The repertoire of mutational signatures in human cancer

4. Rapid evolution of the human mutation spectrum

5. Theorems on Positive Data: On the Uniqueness of NMF

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