Search | Genome Research

Method

Identification of pathogenic variant enriched regions across genes and gene families

Eduardo Pérez-Palma
Patrick May
Sumaiya Iqbal
Lisa-Marie Niestroj
Juanjiangmeng Du
Henrike O. Heyne Jessica A. Castrillon Anne O'Donnell-Luria
... [+3 authors] ...,
Peter Nürnberg
Aarno Palotie
Mark Daly
Dennis Lal

First Published December 23, 2019

Research

ZAK as a cause of limb defects in humans and mice" > Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Malte Spielmann
Naseebullah Kakar
Naeimeh Tayebi
Catherine Leettola
Gudrun Nürnberg
Nadine Sowada Darío G. Lupiáñez Izabela Harabula Ricarda Flöttmann Denise Horn Wing Lee Chan Lars Wittler Rüstem Yilmaz Janine Altmüller Holger Thiele Hans van Bokhoven Charles E. Schwartz Peter Nürnberg James U. Bowie
... [+14 authors] ...,
Jamil Ahmad
Christian Kubisch
Stefan Mundlos
Guntram Borck

First Published January 11, 2016

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

Erratum

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck
Friederike Hög
Maria Lisa Dentici
Perciliz L. Tan
Nadine Sowada
Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
... [+16 authors] ...,
Bruno Dallapiccola
Nicholas Katsanis
Patrick Cramer
Christian Kubisch

First Published April 1, 2015

Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck
Friederike Hög
Maria Lisa Dentici
Perciliz L. Tan
Nadine Sowada
Ana Medeira Lucie Gueneau Holger Thiele Maria Kousi Francesca Lepri Larissa Wenzeck Ian Blumenthal Antonio Radicioni Tito Livio Schwarzenberg Barbara Mandriani Rita Fischetto Deborah J. Morris-Rosendahl Janine Altmüller Alexandre Reymond Peter Nürnberg Giuseppe Merla
... [+16 authors] ...,
Bruno Dallapiccola
Nicholas Katsanis
Patrick Cramer
Christian Kubisch

First Published January 5, 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

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

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

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

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Your search for returned 23 results

Method

Identification of pathogenic variant enriched regions across genes and gene families

Research

ZAK as a cause of limb defects in humans and mice" > Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Method

Read clouds uncover variation in complex regions of the human genome

Erratum

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Research

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies" > BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Method

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

Research

Genome evolution during progression to breast cancer

Method

Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements

Resource

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

Method

Linking disease associations with regulatory information in the human genome

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Your search for returned 23 results

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