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A protein domain and family based approach to rare variant association analysis

Abstract:

It has become common practice to analyse large scale sequencing data with statistical approaches based around the aggregation of rare variants within the same gene. We applied a novel approach to rare variant analysis by collapsing variants together using protein domain and family coordinates, regarded to be a more discrete definition of a biologically functional unit.Using Pfam definitions, we collapsed rare variants (Minor Allele Frequency ≤ 1%) together in three different ways 1) variants ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1371/journal.pone.0153803

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Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, RDM Strategic
Role:
Author
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Grant:
WT091310; 102215/2/13/2
Publisher:
Public Library of Science Publisher's website
Journal:
PloS One Journal website
Volume:
11
Issue:
4
Pages:
e0153803
Publication date:
2016-04-04
DOI:
EISSN:
1932-6203
URN:
uuid:c031a750-9cf6-4c86-b23e-70637e930f06
Source identifiers:
619877
Local pid:
pubs:619877
Language:
English

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