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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
... [+1 authors] ...,
David R. Fitzpatrick
Helen V. Firth
Jeffrey C. Barrett
Matthew E. Hurles

First Published June 21, 2019

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
... [+19 authors] ...,
David R. FitzPatrick
Helen V. Firth
Jeffrey C. Barrett
Matthew E. Hurles

First Published December 26, 2018

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
... [+3 authors] ...,
Mohammed Shehla
Susan E. Tomkins
Pradeep C. Vasudevan
Matthew E. Hurles

First Published August 30, 2017

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
... [+1 authors] ...,
Sahar Mansour
Fiona Stewart
Pradeep Vasudevan
Matthew E. Hurles

First Published December 19, 2013

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
Ira M. Hall

First Published March 22, 2010

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
... [+5 authors] ...,
Evan E. Eichler
Nigel P. Carter
Charles Lee
Richard Redon

First Published September 4, 2008

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
... [+18 authors] ...,
Stephen W. Scherer
Charles Lee
Matthew E. Hurles
Nigel P. Carter

First Published November 22, 2006

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
... [+7 authors] ...,
Keith W. Jones
Michael H. Shapero
Jing Huang
Hiroyuki Aburatani

First Published November 22, 2006

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
... [+4 authors] ...,
Matthew E. Hurles
Nigel P. Carter
Stephen W. Scherer
Charles Lee

First Published June 29, 2006

LETTER

Dynamics of a Human Interparalog Gene Conversion Hotspot

Elena Bosch
Matthew E. Hurles
Arcadi Navarro
Mark A. Jobling

First Published May 3, 2004

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