Search | Genome Research

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

Susan M. Hiatt
James M.J. Lawlor
Lori H. Handley
Donald R. Latner
Zachary T. Bonnstetter
Candice R. Finnila Michelle L. Thompson Lori Beth Boston Melissa Williams Ivan Rodriguez Nunez Jerry Jenkins Whitley V. Kelley E. Martina Bebin Michael A. Lopez Anna C.E. Hurst
... [+10 authors] ...,
Bruce R. Korf
Jeremy Schmutz
Jane Grimwood
Gregory M. Cooper

First Published September 19, 2024

Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs

Ashlyn G. Anderson
Belle A. Moyers
Jacob M. Loupe
Ivan Rodriguez-Nunez
Stephanie A. Felker
James M.J. Lawlor William E. Bunney Blynn G. Bunney Preston M. Cartagena Adolfo Sequeira Stanley J. Watson
... [+6 authors] ...,
Huda Akil
Eric M. Mendenhall
Gregory M. Cooper
Richard M. Myers

First Published August 16, 2024

cis-regulatory elements" > Probabilistic association of differentially expressed genes with cis-regulatory elements

Brian S. Roberts
Ashlyn G. Anderson
E. Christopher Partridge
Gregory M. Cooper
Richard M. Myers

First Published April 17, 2024

Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands

Brian S. Roberts
E. Christopher Partridge
Bryan A. Moyers
Vikram Agarwal
Kimberly M. Newberry
Beth K. Martin
Jay Shendure
Richard M. Myers
Gregory M. Cooper

First Published April 20, 2021

Inversion variants in human and primate genomes

Claudia Rita Catacchio
Flavia Angela Maria Maggiolini
Pietro D'Addabbo
Miriana Bitonto
Oronzo Capozzi
Martina Lepore Signorile Mattia Miroballo
... [+2 authors] ...,
Nicoletta Archidiacono
Evan E. Eichler
Mario Ventura
Francesca Antonacci

First Published May 18, 2018

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

Fumitaka Inoue
Martin Kircher
Beth Martin
Gregory M. Cooper
Daniela M. Witten
Michael T. McManus
Nadav Ahituv
Jay Shendure

First Published May 1, 2018

A genome-wide interactome of DNA-associated proteins in the human liver

Ryne C. Ramaker
Daniel Savic
Andrew A. Hardigan
Kimberly Newberry
Gregory M. Cooper
Richard M. Myers
Sara J. Cooper

First Published October 11, 2017

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

Fumitaka Inoue
Martin Kircher
Beth Martin
Gregory M. Cooper
Daniela M. Witten
Michael T. McManus
Nadav Ahituv
Jay Shendure

First Published November 9, 2016

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites

Daniel Savic
Brian S. Roberts
Julia B. Carleton
E. Christopher Partridge
Michael A. White
Barak A. Cohen
Gregory M. Cooper
Jason Gertz
Richard M. Myers

First Published October 20, 2015

Parlez-vous VUS?

Gregory M. Cooper

First Published October 1, 2015

Chlorocebus aethiops sabaeus)" > The genome of the vervet (Chlorocebus aethiops sabaeus)

Wesley C. Warren
Anna J. Jasinska
Raquel García-Pérez
Hannes Svardal
Chad Tomlinson
Mariano Rocchi Nicoletta Archidiacono Oronzo Capozzi Patrick Minx Michael J. Montague Kim Kyung LaDeana W. Hillier Milinn Kremitzki Tina Graves Colby Chiang Jennifer Hughes Nam Tran Yu Huang Vasily Ramensky Oi-wa Choi Yoon J. Jung Christopher A. Schmitt Nikoleta Juretic Jessica Wasserscheid Trudy R. Turner Roger W. Wiseman Jennifer J. Tuscher Julie A. Karl Jörn E. Schmitz Roland Zahn David H. O'Connor Eugene Redmond Alex Nisbett Béatrice Jacquelin Michaela C. Müller-Trutwin Jason M. Brenchley Michel Dione Martin Antonio Gary P. Schroth Jay R. Kaplan Matthew J. Jorgensen Gregg W.C. Thomas Matthew W. Hahn Brian J. Raney Bronwen Aken Rishi Nag Juergen Schmitz Gennady Churakov Angela Noll Roscoe Stanyon David Webb Francoise Thibaud-Nissen Magnus Nordborg Tomas Marques-Bonet
... [+49 authors] ...,
Ken Dewar
George M. Weinstock
Richard K. Wilson
Nelson B. Freimer

First Published September 16, 2015

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

Oronzo Capozzi
Lucia Carbone
Roscoe R. Stanyon
Annamaria Marra
Fengtang Yang
Christopher W. Whelan
Pieter J. de Jong
Mariano Rocchi
Nicoletta Archidiacono

First Published August 14, 2012

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

David L. Goode
Gregory M. Cooper
Jeremy Schmutz
Mark Dickson
Eidelyn Gonzales
Ming Tsai Kalpana Karra
... [+2 authors] ...,
Eugene Davydov
Serafim Batzoglou
Richard M. Myers
Arend Sidow

First Published January 12, 2010

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Heather C. Mefford
Gregory M. Cooper
Troy Zerr
Joshua D. Smith
Carl Baker
Neil Shafer Erik C. Thorland
... [+2 authors] ...,
Cindy Skinner
Charles E. Schwartz
Deborah A. Nickerson
Evan E. Eichler

First Published June 8, 2009

Evolutionary descent of a human chromosome 6 neocentromere: A jump back to 17 million years ago

Oronzo Capozzi
Stefania Purgato
Pietro D'Addabbo
Nicoletta Archidiacono
Paola Battaglia
Anna Baroncini
... [+1 authors] ...,
Antonella Capucci
Roscoe Stanyon
Giuliano Della Valle
Mariano Rocchi

First Published May 1, 2009

Hylobates and Nomascus Gibbons by high-resolution synteny mapping" > Tracking the complex flow of chromosome rearrangements from the Hominoidea Ancestor to extant Hylobates and Nomascus Gibbons by high-resolution synteny mapping

Doriana Misceo
Oronzo Capozzi
Roberta Roberto
Maria P. Dell’Oglio
Mariano Rocchi
Roscoe Stanyon
Nicoletta Archidiacono

First Published June 13, 2008

Qualifying the relationship between sequence conservation and molecular function

Gregory M. Cooper
Christopher D. Brown

First Published February 1, 2008

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Elliott H. Margulies
Gregory M. Cooper
George Asimenos
Daryl J. Thomas
Colin N. Dewey
Adam Siepel Ewan Birney Damian Keefe Ariel S. Schwartz Minmei Hou James Taylor Sergey Nikolaev Juan I. Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham James B. Brown Peter Bickel Ian Holmes James C. Mullikin Abel Ureta-Vidal Benedict Paten Eric A. Stone Kate R. Rosenbloom W. James Kent Gerard G. Bouffard Xiaobin Guan Nancy F. Hansen Jacquelyn R. Idol Valerie V.B. Maduro Baishali Maskeri Jennifer C. McDowell Morgan Park Pamela J. Thomas Alice C. Young Robert W. Blakesley Donna M. Muzny Erica Sodergren David A. Wheeler Kim C. Worley Huaiyang Jiang George M. Weinstock Richard A. Gibbs Tina Graves Robert Fulton Elaine R. Mardis Richard K. Wilson Michele Clamp James Cuff Sante Gnerre David B. Jaffe Jean L. Chang Kerstin Lindblad-Toh Eric S. Lander Angie Hinrichs Heather Trumbower Hiram Clawson Ann Zweig Robert M. Kuhn Galt Barber Rachel Harte Donna Karolchik Matthew A. Field Richard A. Moore Carrie A. Matthewson Jacqueline E. Schein Marco A. Marra Stylianos E. Antonarakis Serafim Batzoglou Nick Goldman Ross Hardison David Haussler
... [+68 authors] ...,
Webb Miller
Lior Pachter
Eric D. Green
Arend Sidow

First Published June 13, 2007

Molecular refinement of gibbon genome rearrangements

Roberta Roberto
Oronzo Capozzi
Richard K. Wilson
Elaine R. Mardis
Mariana Lomiento
Eray Tuzun Ze Cheng
... [+2 authors] ...,
Alan R. Mootnick
Nicoletta Archidiacono
Mariano Rocchi
Evan E. Eichler

First Published December 21, 2006

Distribution and intensity of constraint in mammalian genomic sequence

Gregory M. Cooper
Eric A. Stone
George Asimenos
Eric D. Green
Serafim Batzoglou
Arend Sidow

First Published June 17, 2005

Automated Whole-Genome Multiple Alignment of Rat, Mouse, and Human

Michael Brudno
Alexander Poliakov
Asaf Salamov
Gregory M. Cooper
Arend Sidow
Edward M. Rubin
Victor Solovyev
Serafim Batzoglou
Inna Dubchak

First Published April 1, 2004

Characterization of Evolutionary Rates and Constraints in Three Mammalian Genomes

Gregory M. Cooper
Michael Brudno
Eric A. Stone
Inna Dubchak
Serafim Batzoglou
Arend Sidow

First Published April 1, 2004

Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian Genomes

Gregory M. Cooper
Michael Brudno
NISC Comparative Sequencing Program
Eric D. Green
Serafim Batzoglou
Arend Sidow

First Published May 1, 2003

LAGAN and Multi-LAGAN: Efficient Tools for Large-Scale Multiple Alignment of Genomic DNA

Michael Brudno
Chuong B. Do
Gregory M. Cooper
Michael F. Kim
Eugene Davydov
NISC Comparative Sequencing Program
Eric D. Green
Arend Sidow
Serafim Batzoglou

First Published March 12, 2003

Filter results by:

Your search for returned 24 results

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs

cis-regulatory elements" > Probabilistic association of differentially expressed genes with cis-regulatory elements

Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands

Inversion variants in human and primate genomes

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

A genome-wide interactome of DNA-associated proteins in the human liver

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites

Parlez-vous VUS?

Chlorocebus aethiops sabaeus)" > The genome of the vervet (Chlorocebus aethiops sabaeus)

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Evolutionary descent of a human chromosome 6 neocentromere: A jump back to 17 million years ago

Hylobates and Nomascus Gibbons by high-resolution synteny mapping" > Tracking the complex flow of chromosome rearrangements from the Hominoidea Ancestor to extant Hylobates and Nomascus Gibbons by high-resolution synteny mapping

Qualifying the relationship between sequence conservation and molecular function

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Molecular refinement of gibbon genome rearrangements

Distribution and intensity of constraint in mammalian genomic sequence

Automated Whole-Genome Multiple Alignment of Rat, Mouse, and Human

Characterization of Evolutionary Rates and Constraints in Three Mammalian Genomes

Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian Genomes

LAGAN and Multi-LAGAN: Efficient Tools for Large-Scale Multiple Alignment of Genomic DNA

Filter results by:

Filter by Author

Filter by Article type

Your search for returned 24 results