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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

Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration

  • Weisheng Wu
  • Yong Cheng
  • Cheryl A. Keller
  • Jason Ernst
  • Swathi Ashok Kumar
  • Tejaswini Mishra Christapher Morrissey Christine M. Dorman Kuan-Bei Chen Daniela Drautz Belinda Giardine Yoichiro Shibata Lingyun Song Max Pimkin Gregory E. Crawford Terrence S. Furey Manolis Kellis Webb Miller James Taylor Stephan C. Schuster Yu Zhang
  • ... [+16 authors] ...,
  • Francesca Chiaromonte
  • Gerd A. Blobel
  • Mitchell J. Weiss
  • Ross C. Hardison
  • First Published July 27, 2011
Method

Genome-wide identification of conserved regulatory function in diverged sequences

  • Leila Taher
  • David M. McGaughey
  • Samantha Maragh
  • Ivy Aneas
  • Seneca L. Bessling
  • Webb Miller
  • Marcelo A. Nobrega
  • Andrew S. McCallion
  • Ivan Ovcharenko
  • First Published May 31, 2011
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

Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications, and mRNA expression

  • Yong Cheng
  • Weisheng Wu
  • Swathi Ashok Kumar
  • Duonan Yu
  • Wulan Deng
  • Tamara Tripic David C. King Kuan-Bei Chen Ying Zhang Daniela Drautz Belinda Giardine Stephan C. Schuster Webb Miller Francesca Chiaromonte
  • ... [+9 authors] ...,
  • Yu Zhang
  • Gerd A. Blobel
  • Mitchell J. Weiss
  • Ross C. Hardison
  • First Published November 3, 2009
LETTER

Thylacinus cynocephalus)" > The mitochondrial genome sequence of the Tasmanian tiger (Thylacinus cynocephalus)

  • Webb Miller
  • Daniela I. Drautz
  • Jan E. Janecka
  • Arthur M. Lesk
  • Aakrosh Ratan
  • Lynn P. Tomsho Mike Packard Yeting Zhang Lindsay R. McClellan Ji Qi Fangqing Zhao M. Thomas P. Gilbert Love Dalén Juan Luis Arsuaga Per G.P. Ericson Daniel H. Huson
  • ... [+11 authors] ...,
  • Kristofer M. Helgen
  • William J. Murphy
  • Anders Götherström
  • Stephan C. Schuster
  • First Published January 12, 2009
LETTER

Transcriptional enhancement by GATA1-occupied DNA segments is strongly associated with evolutionary constraint on the binding site motif

  • Yong Cheng
  • David C. King
  • Louis C. Dore
  • Xinmin Zhang
  • Yuepin Zhou
  • Ying Zhang Christine Dorman Demesew Abebe Swathi A. Kumar Francesca Chiaromonte
  • ... [+5 authors] ...,
  • Webb Miller
  • Roland D. Green
  • Mitchell J. Weiss
  • Ross C. Hardison
  • First Published September 25, 2008
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