Skip to main content

Main menu

  • Home
  • Content
    • First Release
    • Current
    • Archives
    • Collections
    • Audiovisual Rheum
    • 50th Volume Reprints
  • Resources
    • Guide for Authors
    • Submit Manuscript
    • Payment
    • Reviewers
    • Advertisers
    • Classified Ads
    • Reprints and Translations
    • Permissions
    • Meetings
    • FAQ
    • Policies
  • Subscribers
    • Subscription Information
    • Purchase Subscription
    • Your Account
    • Terms and Conditions
  • About Us
    • About Us
    • Editorial Board
    • Letter from the Editor
    • Duncan A. Gordon Award
    • Privacy/GDPR Policy
    • Accessibility
  • Contact Us
  • JRheum Supplements
  • Services

User menu

  • My Cart
  • Log In

Search

  • Advanced search
The Journal of Rheumatology
  • JRheum Supplements
  • Services
  • My Cart
  • Log In
The Journal of Rheumatology

Advanced Search

  • Home
  • Content
    • First Release
    • Current
    • Archives
    • Collections
    • Audiovisual Rheum
    • 50th Volume Reprints
  • Resources
    • Guide for Authors
    • Submit Manuscript
    • Payment
    • Reviewers
    • Advertisers
    • Classified Ads
    • Reprints and Translations
    • Permissions
    • Meetings
    • FAQ
    • Policies
  • Subscribers
    • Subscription Information
    • Purchase Subscription
    • Your Account
    • Terms and Conditions
  • About Us
    • About Us
    • Editorial Board
    • Letter from the Editor
    • Duncan A. Gordon Award
    • Privacy/GDPR Policy
    • Accessibility
  • Contact Us
  • Follow Jrheum on BlueSky
  • Follow jrheum on Twitter
  • Visit jrheum on Facebook
  • Follow jrheum on LinkedIn
  • Follow jrheum on YouTube
  • Follow jrheum on Instagram
  • Follow jrheum on RSS
EditorialEditorial

Genome-wide Sequencing in Rheumatic Diseases

LINDA T. HIRAKI
The Journal of Rheumatology December 2018, 45 (12) 1614-1616; DOI: https://doi.org/10.3899/jrheum.180951
LINDA T. HIRAKI
Hospital for Sick Children, Rheumatology, 555 University Ave., Toronto, Ontario M5G 1X5, Canada.
MD, FRCPC, ScD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: linda.hiraki{at}sickkids.ca
  • Article
  • Info & Metrics
  • References
  • PDF
PreviousNext
Loading

REFERENCES

  1. 1.↵
    1. Batu ED,
    2. Koşukcu C,
    3. Taşkıran E,
    4. Sahin S,
    5. Akman S,
    6. Sözeri B,
    7. et al.
    Whole exome sequencing in early-onset systemic lupus erythematosus. J Rheumatol 2018;45:1671–9.
    OpenUrlAbstract/FREE Full Text
  2. 2.↵
    1. Al-Mayouf SM,
    2. Sunker A,
    3. Abdwani R,
    4. Abrawi SA,
    5. Almurshedi F,
    6. Alhashmi N,
    7. et al.
    Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet 2011;43:1186–8.
    OpenUrlCrossRefPubMed
  3. 3.↵
    1. Ozcakar ZB,
    2. Foster J 2nd,
    3. Diaz-Horta O,
    4. Kasapcopur O,
    5. Fan YS,
    6. Yalcinkaya F,
    7. et al.
    DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. Arthritis Rheum 2013;65:2183–9.
    OpenUrl
  4. 4.↵
    1. Carbonella A,
    2. Mancano G,
    3. Gremese E,
    4. Alkuraya FS,
    5. Patel N,
    6. Gurrieri F,
    7. et al.
    An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus. Lupus 2017;26:768–72.
    OpenUrl
  5. 5.↵
    1. Sisirak V,
    2. Sally B,
    3. D’Agati V,
    4. Martinez-Ortiz W,
    5. Ozcakar ZB,
    6. David J,
    7. et al.
    Digestion of chromatin in apoptotic cell microparticles prevents autoimmunity. Cell 2016;166:88–101.
    OpenUrlCrossRefPubMed
  6. 6.↵
    1. Zhao Q,
    2. Yang C,
    3. Wang J,
    4. Li Y,
    5. Yang P
    . Serum level of DNase1l3 in patients with dermatomyositis/polymyositis, systemic lupus erythematosus and rheumatoid arthritis, and its association with disease activity. Clin Exp Med 2017;17:459–65.
    OpenUrl
  7. 7.↵
    1. Hayeems RZ,
    2. Boycott KM
    . Genome-wide sequencing technologies: A primer for paediatricians. Paediatr Child Health 2018;23:191–7.
    OpenUrl
  8. 8.↵
    1. Gattorno M,
    2. Martini A
    . Treatment of autoinflammatory syndromes. Curr Opin Pediatr 2010;22:771–8.
    OpenUrlPubMed
  9. 9.↵
    1. Lane T,
    2. Loeffler JM,
    3. Rowczenio DM,
    4. Gilbertson JA,
    5. Bybee A,
    6. Russell TL,
    7. et al.
    AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum 2013;65:1116–21.
    OpenUrlCrossRefPubMed
  10. 10.↵
    1. Rehm HL,
    2. Bale SJ,
    3. Bayrak-Toydemir P,
    4. Berg JS,
    5. Brown KK,
    6. Deignan JL,
    7. et al.
    ACMG clinical laboratory standards for n ext-generation sequencing. Genet Med 2013;15:733–47.
    OpenUrlCrossRefPubMed
  11. 11.↵
    1. Majewski J,
    2. Schwartzentruber J,
    3. Lalonde E,
    4. Montpetit A,
    5. Jabado N
    . What can exome sequencing do for you? J Med Genet 2011;48:580–9.
    OpenUrlAbstract/FREE Full Text
  12. 12.↵
    1. Yang Y,
    2. Muzny DM,
    3. Reid JG,
    4. Bainbridge MN,
    5. Willis A,
    6. Ward PA,
    7. et al.
    Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369:1502–11.
    OpenUrlCrossRefPubMed
  13. 13.↵
    1. Dillon OJ,
    2. Lunke S,
    3. Stark Z,
    4. Yeung A,
    5. Thorne N;
    6. Melbourne Genomics Health Alliance,
    7. et al.
    Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet 2018;26:644–51.
    OpenUrl
  14. 14.↵
    1. Boycott K,
    2. Hartley T,
    3. Adam S,
    4. Bernier F,
    5. Chong K,
    6. Fernandez BA,
    7. et al.
    The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists. J Med Genet 2015;52:431–7.
    OpenUrlAbstract/FREE Full Text
  15. 15.↵
    1. Lionel AC,
    2. Costain G,
    3. Monfared N,
    4. Walker S,
    5. Reuter MS,
    6. Hosseini SM,
    7. et al.
    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med 2018;20:435–43.
    OpenUrl
  16. 16.↵
    1. Stavropoulos DJ,
    2. Merico D,
    3. Jobling R,
    4. Bowdin S,
    5. Monfared N,
    6. Thiruvahindrapuram B,
    7. et al.
    Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine. NPJ Genom Med 2016;1:15012.
    OpenUrl
PreviousNext
Back to top

In this issue

The Journal of Rheumatology
Vol. 45, Issue 12
1 Dec 2018
  • Table of Contents
  • Table of Contents (PDF)
  • Index by Author
  • Editorial Board (PDF)
Print
Download PDF
Article Alerts
Sign In to Email Alerts with your Email Address
Email Article

Thank you for your interest in spreading the word about The Journal of Rheumatology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Genome-wide Sequencing in Rheumatic Diseases
(Your Name) has forwarded a page to you from The Journal of Rheumatology
(Your Name) thought you would like to see this page from the The Journal of Rheumatology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Citation Tools
Genome-wide Sequencing in Rheumatic Diseases
LINDA T. HIRAKI
The Journal of Rheumatology Dec 2018, 45 (12) 1614-1616; DOI: 10.3899/jrheum.180951

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero

 Request Permissions

Share
Genome-wide Sequencing in Rheumatic Diseases
LINDA T. HIRAKI
The Journal of Rheumatology Dec 2018, 45 (12) 1614-1616; DOI: 10.3899/jrheum.180951
del.icio.us logo Twitter logo Facebook logo  logo Mendeley logo
  • Tweet Widget
  •  logo
Bookmark this article

Jump to section

  • Article
    • Targeted gene panel
    • WES
    • WGS
    • Footnotes
    • REFERENCES
  • Info & Metrics
  • References
  • PDF

Related Articles

Cited By...

More in this TOC Section

  • Confidence in the Use of Immunomodulatory Medications During Pregnancy: How Can Patient and Clinician Experience Be Improved?
  • Improving Mental Health Care for People With Systemic Lupus Erythematosus: Time to Take Action
  • Ample Room for Improvement
Show more Editorial

Similar Articles

Content

  • First Release
  • Current
  • Archives
  • Collections
  • Audiovisual Rheum
  • COVID-19 and Rheumatology

Resources

  • Guide for Authors
  • Submit Manuscript
  • Author Payment
  • Reviewers
  • Advertisers
  • Classified Ads
  • Reprints and Translations
  • Permissions
  • Meetings
  • FAQ
  • Policies

Subscribers

  • Subscription Information
  • Purchase Subscription
  • Your Account
  • Terms and Conditions

More

  • About Us
  • Contact Us
  • My Alerts
  • My Folders
  • Privacy/GDPR Policy
  • RSS Feeds
The Journal of Rheumatology
The content of this site is intended for health care professionals.
Copyright © 2025 by The Journal of Rheumatology Publishing Co. Ltd.
Print ISSN: 0315-162X; Online ISSN: 1499-2752
Powered by HighWire