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Matthew E. Hurles
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Displaying results 1-10 of
11
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Research
:
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
Joanna Kaplanis
,
Nadia Akawi
,
Giuseppe Gallone
,
Jeremy F. McRae
,
Elena Prigmore
,
Caroline F. Wright
,
David R. Fitzpatrick
,
Helen V. Firth
,
Jeffrey C. Barrett
,
Matthew E. Hurles
,
and
on behalf of the Deciphering Developmental Disorders study
Genome Res.
July 2019
29
:
1047
-
1056
;
Published in Advance
June 21, 2019
,
doi:
10.1101/gr.239756.118
Abstract
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Research
:
Pathogenicity and selective constraint on variation near splice sites
Jenny Lord
,
Giuseppe Gallone
,
Patrick J. Short
,
Jeremy F. McRae
,
Holly Ironfield
,
Elizabeth H. Wynn
,
Sebastian S. Gerety
,
Liu He
,
Bronwyn Kerr
,
Diana S. Johnson
,
Emma McCann
,
Esther Kinning
,
Frances Flinter
,
I. Karen Temple
,
Jill Clayton-Smith
,
Meriel McEntagart
,
Sally Ann Lynch
,
Shelagh Joss
,
Sofia Douzgou
,
Tabib Dabir
,
Virginia Clowes
,
Vivienne P.M. McConnell
,
Wayne Lam
,
Caroline F. Wright
,
David R. FitzPatrick
,
Helen V. Firth
,
Jeffrey C. Barrett
,
Matthew E. Hurles
,
and
on behalf of the Deciphering Developmental Disorders study
Genome Res.
February 2019
29
:
159
-
170
;
Published in Advance
December 26, 2018
,
doi:
10.1101/gr.238444.118
Abstract
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Method
:
Detection of structural mosaicism from targeted and whole-genome sequencing data
Daniel A. King
,
Alejandro Sifrim
,
Tomas W. Fitzgerald
,
Raheleh Rahbari
,
Emma Hobson
,
Tessa Homfray
,
Sahar Mansour
,
Sarju G. Mehta
,
Mohammed Shehla
,
Susan E. Tomkins
,
Pradeep C. Vasudevan
,
Matthew E. Hurles
,
and
The Deciphering Developmental Disorders Study
Genome Res.
October 2017
27
:
1704
-
1714
;
Published in Advance
August 30, 2017
,
doi:
10.1101/gr.212373.116
Abstract
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Method
:
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
Daniel A. King
,
Tomas W. Fitzgerald
,
Ray Miller
,
Natalie Canham
,
Jill Clayton-Smith
,
Diana Johnson
,
Sahar Mansour
,
Fiona Stewart
,
Pradeep Vasudevan
,
Matthew E. Hurles
,
and
the DDD Study
Genome Res.
April 2014
24
:
673
-
687
;
Published in Advance
December 19, 2013
,
doi:
10.1101/gr.160465.113
Abstract
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Research
:
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome
Aaron R. Quinlan
,
Royden A. Clark
,
Svetlana Sokolova
,
Mitchell L. Leibowitz
,
Yujun Zhang
,
Matthew E. Hurles
,
Joshua C. Mell
,
and
Ira M. Hall
Genome Res.
May 2010
20
:
623
-
635
;
Published in Advance
March 22, 2010
,
doi:
10.1101/gr.102970.109
Abstract
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ARTICLE
:
Copy number variation and evolution in humans and chimpanzees
George H. Perry
,
Fengtang Yang
,
Tomas Marques-Bonet
,
Carly Murphy
,
Tomas Fitzgerald
,
Arthur S. Lee
,
Courtney Hyland
,
Anne C. Stone
,
Matthew E. Hurles
,
Chris Tyler-Smith
,
Evan E. Eichler
,
Nigel P. Carter
,
Charles Lee
,
and
Richard Redon
Genome Res.
November 2008
18
:
1698
-
1710
;
Published in Advance
September 4, 2008
,
doi:
10.1101/gr.082016.108
Abstract
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Methods
:
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
Daisuke Komura
,
Fan Shen
,
Shumpei Ishikawa
,
Karen R. Fitch
,
Wenwei Chen
,
Jane Zhang
,
Guoying Liu
,
Sigeo Ihara
,
Hiroshi Nakamura
,
Matthew E. Hurles
,
Charles Lee
,
Stephen W. Scherer
,
Keith W. Jones
,
Michael H. Shapero
,
Jing Huang
,
and
Hiroyuki Aburatani
Genome Res.
December 2006
16
:
1575
-
1584
;
Published in Advance
November 22, 2006
,
doi:
10.1101/gr.5629106
Abstract
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Methods
:
Accurate and reliable high-throughput detection of copy number variation in the human genome
Heike Fiegler
,
Richard Redon
,
Dan Andrews
,
Carol Scott
,
Robert Andrews
,
Carol Carder
,
Richard Clark
,
Oliver Dovey
,
Peter Ellis
,
Lars Feuk
,
Lisa French
,
Paul Hunt
,
Dimitrios Kalaitzopoulos
,
James Larkin
,
Lyndal Montgomery
,
George H. Perry
,
Bob W. Plumb
,
Keith Porter
,
Rachel E. Rigby
,
Diane Rigler
,
Armand Valsesia
,
Cordelia Langford
,
Sean J. Humphray
,
Stephen W. Scherer
,
Charles Lee
,
Matthew E. Hurles
,
and
Nigel P. Carter
Genome Res.
December 2006
16
:
1566
-
1574
;
Published in Advance
November 22, 2006
,
doi:
10.1101/gr.5630906
Abstract
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REVIEW
:
Copy number variation: New insights in genome diversity
Jennifer L. Freeman
,
George H. Perry
,
Lars Feuk
,
Richard Redon
,
Steven A. McCarroll
,
David M. Altshuler
,
Hiroyuki Aburatani
,
Keith W. Jones
,
Chris Tyler-Smith
,
Matthew E. Hurles
,
Nigel P. Carter
,
Stephen W. Scherer
,
and
Charles Lee
Genome Res.
August 2006
16
:
949
-
961
;
Published in Advance
June 29, 2006
,
doi:
10.1101/gr.3677206
Abstract
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LETTER
:
Dynamics of a Human Interparalog Gene Conversion Hotspot
Elena Bosch
,
Matthew E. Hurles
,
Arcadi Navarro
,
and
Mark A. Jobling
Genome Res.
May 2004
14
:
835
-
844
;
doi:
10.1101/gr.2177404
Abstract
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