Search | Genome Research

Your search for returned 38 results

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

Read clouds uncover variation in complex regions of the human genome

Alex Bishara
Yuling Liu
Ziming Weng
Dorna Kashef-Haghighi
Daniel E. Newburger
Robert West
Arend Sidow
Serafim Batzoglou

First Published August 18, 2015

Method

Parente2: a fast and accurate method for detecting identity by descent

Jesse M. Rodriguez
Sivan Bercovici
Lin Huang
Roy Frostig
Serafim Batzoglou

First Published October 1, 2014

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 evolution during progression to breast cancer

Daniel E. Newburger
Dorna Kashef-Haghighi
Ziming Weng
Raheleh Salari
Robert T. Sweeney
Alayne L. Brunner Shirley X. Zhu Xiangqian Guo Sushama Varma
... [+4 authors] ...,
Megan L. Troxell
Robert B. West
Serafim Batzoglou
Arend Sidow

First Published April 8, 2013

Method

Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements

Anshul Kundaje
Sofia Kyriazopoulou-Panagiotopoulou
Max Libbrecht
Cheryl L. Smith
Debasish Raha
Elliott E. Winters
... [+1 authors] ...,
Steven M. Johnson
Michael Snyder
Serafim Batzoglou
Arend Sidow

First Published September 5, 2012

Method

Linking disease associations with regulatory information in the human genome

Marc A. Schaub
Alan P. Boyle
Anshul Kundaje
Serafim Batzoglou
Michael Snyder

First Published September 5, 2012

Resource

ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia

Stephen G. Landt
Georgi K. Marinov
Anshul Kundaje
Pouya Kheradpour
Florencia Pauli
Serafim Batzoglou Bradley E. Bernstein Peter Bickel James B. Brown Philip Cayting Yiwen Chen Gilberto DeSalvo Charles Epstein Katherine I. Fisher-Aylor Ghia Euskirchen Mark Gerstein Jason Gertz Alexander J. Hartemink Michael M. Hoffman Vishwanath R. Iyer Youngsook L. Jung Subhradip Karmakar Manolis Kellis Peter V. Kharchenko Qunhua Li Tao Liu X. Shirley Liu Lijia Ma Aleksandar Milosavljevic Richard M. Myers Peter J. Park Michael J. Pazin Marc D. Perry Debasish Raha Timothy E. Reddy Joel Rozowsky Noam Shoresh Arend Sidow Matthew Slattery John A. Stamatoyannopoulos Michael Y. Tolstorukov Kevin P. White Simon Xi
... [+38 authors] ...,
Peggy J. Farnham
Jason D. Lieb
Barbara J. Wold
Michael Snyder

First Published September 5, 2012

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