Journal article
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
- Abstract:
-
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or <2(n...
Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Access Document
- Files:
-
-
(Version of record, pdf, 720.2KB)
-
- Publisher copy:
- 10.1016/j.ajhg.2014.01.010
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Bibliographic Details
- Publisher:
- Cell Press Publisher's website
- Journal:
- American journal of human genetics Journal website
- Volume:
- 94
- Issue:
- 2
- Pages:
- 233-245
- Publication date:
- 2014-02-01
- DOI:
- EISSN:
-
1537-6605
- ISSN:
-
0002-9297
- Source identifiers:
-
449160
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:449160
- UUID:
-
uuid:53bdf012-3e48-4692-835f-d0033e584ec3
- Local pid:
- pubs:449160
- Deposit date:
- 2014-05-09
Terms of use
- Copyright holder:
- The American Society of Human Genetics
- Copyright date:
- 2014
- Notes:
- Copyright © 2014 by The American Society of Human Genetics. Under Elsevier user license.
- Licence:
- Other
If you are the owner of this record, you can report an update to it here: Report update to this record