Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou; Gregory Valiant; Paul Valiant; Konrad Karczewski; Siu On Chan; Kaitlin Samocha; Monkol Lek; Exome Aggregation Consortium; Shamil Sunyaev; Mark Daly; Daniel G MacArthur

doi:10.1101/030841

New Results

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel G MacArthur

doi: https://doi.org/10.1101/030841

James Zou

1Microsoft Research, One Memorial Drive, Cambridge MA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Gregory Valiant

2Computer Science Department, Stanford University, Palo Alto CA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Paul Valiant

3Computer Science Department, Brown University, Providence RI, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Konrad Karczewski

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA

5Broad Institute or MIT and Harvard, Cambridge MA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Siu On Chan

6Computer Science and Engineering, Chinese University of Hong Kong, Hong Kong, China.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Kaitlin Samocha

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA

5Broad Institute or MIT and Harvard, Cambridge MA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Monkol Lek

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA

5Broad Institute or MIT and Harvard, Cambridge MA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

7Exome Aggregation Consortium (ExAC), Cambridge MA, USA

Shamil Sunyaev

5Broad Institute or MIT and Harvard, Cambridge MA, USA

8Division of Genetics, Brigham and Women’s Hospital, Harvard Medical School, Boston MA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Mark Daly

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA

5Broad Institute or MIT and Harvard, Cambridge MA, USA

9Department of Medicine, Harvard Medical School, Boston MA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Daniel G MacArthur

4Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA

5Broad Institute or MIT and Harvard, Cambridge MA, USA

9Department of Medicine, Harvard Medical School, Boston MA, USA

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Abstract
Full Text
Info/History
Metrics
Preview PDF

You do not have access to the full text of this article, the first page of the PDF of this article appears above.

The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.

View the discussion thread.

PreviousNext

Posted November 07, 2015.

Download PDF

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Your Email *

Your Name *

Send To *

Enter multiple addresses on separate lines or separate them with commas.

You are going to email the following Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

Message Subject (Your Name) has forwarded a page to you from bioRxiv

Message Body (Your Name) thought you would like to see this page from the bioRxiv website.

Your Personal Message

CAPTCHA

This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel G MacArthur

bioRxiv 030841; doi: https://doi.org/10.1101/030841

Share This Article:

Citation Tools

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Exome Aggregation Consortium, Shamil Sunyaev, Mark Daly, Daniel G MacArthur

bioRxiv 030841; doi: https://doi.org/10.1101/030841

Citation Manager Formats

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

Tweet Widget
Facebook Like
Google Plus One

Subject Area

Genetics

Subject Areas

All Articles

Animal Behavior and Cognition (4377)
Biochemistry (9567)
Bioengineering (7078)
Bioinformatics (24805)
Biophysics (12581)
Cancer Biology (9929)
Cell Biology (14307)
Clinical Trials (138)
Developmental Biology (7940)
Ecology (12086)
Epidemiology (2067)
Evolutionary Biology (15968)
Genetics (10910)
Genomics (14717)
Immunology (9854)
Microbiology (23605)
Molecular Biology (9466)
Neuroscience (50779)
Paleontology (369)
Pathology (1537)
Pharmacology and Toxicology (2675)
Physiology (4003)
Plant Biology (8646)
Scientific Communication and Education (1506)
Synthetic Biology (2388)
Systems Biology (6417)
Zoology (1345)