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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

Human-specific features of spatial gene expression and regulation in eight brain regions

Chuan Xu
Qian Li
Olga Efimova
Liu He
Shoji Tatsumoto
Vita Stepanova Takao Oishi Toshifumi Udono Katsushi Yamaguchi Shuji Shigenobu
... [+5 authors] ...,
Akiyoshi Kakita
Hiroyuki Nawa
Philipp Khaitovich
Yasuhiro Go

First Published June 13, 2018

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

Myungjin Jo
Ah Young Chung
Nozomu Yachie
Minchul Seo
Hyejin Jeon
Youngpyo Nam Yeojin Seo Eunmi Kim Quan Zhong
... [+4 authors] ...,
Marc Vidal
Hae Chul Park
Frederick P. Roth
Kyoungho Suk

First Published June 8, 2017

An extended set of yeast-based functional assays accurately identifies human disease mutations

Song Sun
Fan Yang
Guihong Tan
Michael Costanzo
Rose Oughtred
Jodi Hirschman Chandra L. Theesfeld Pritpal Bansal Nidhi Sahni Song Yi Analyn Yu Tanya Tyagi Cathy Tie David E. Hill Marc Vidal
... [+10 authors] ...,
Brenda J. Andrews
Charles Boone
Kara Dolinski
Frederick P. Roth

First Published March 14, 2016

Understanding transcriptional regulation by integrative analysis of transcription factor binding data

Chao Cheng
Roger Alexander
Renqiang Min
Jing Leng
Kevin Y. Yip
Joel Rozowsky Koon-Kiu Yan Xianjun Dong Sarah Djebali Yijun Ruan Carrie A. Davis Piero Carninci Timo Lassman Thomas R. Gingeras Roderic Guigó
... [+10 authors] ...,
Ewan Birney
Zhiping Weng
Michael Snyder
Mark Gerstein

First Published September 5, 2012

Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors

Jie Wang
Jiali Zhuang
Sowmya Iyer
XinYing Lin
Troy W. Whitfield
Melissa C. Greven Brian G. Pierce Xianjun Dong Anshul Kundaje Yong Cheng Oliver J. Rando Ewan Birney
... [+7 authors] ...,
Richard M. Myers
William S. Noble
Michael Snyder
Zhiping Weng

First Published September 5, 2012

Extension of cortical synaptic development distinguishes humans from chimpanzees and macaques

Xiling Liu
Mehmet Somel
Lin Tang
Zheng Yan
Xi Jiang
Song Guo Yuan Yuan Liu He Anna Oleksiak Yan Zhang Na Li Yuhui Hu
... [+7 authors] ...,
Wei Chen
Zilong Qiu
Svante Pääbo
Philipp Khaitovich

First Published February 2, 2012

Cell-type specific and combinatorial usage of diverse transcription factors revealed by genome-wide binding studies in multiple human cells

Bum-Kyu Lee
Akshay A. Bhinge
Anna Battenhouse
Ryan M. McDaniell
Zheng Liu
Lingyun Song Yunyun Ni Ewan Birney
... [+3 authors] ...,
Jason D. Lieb
Terrence S. Furey
Gregory E. Crawford
Vishwanath R. Iyer

First Published November 16, 2011

Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity

Lingyun Song
Zhancheng Zhang
Linda L. Grasfeder
Alan P. Boyle
Paul G. Giresi
Bum-Kyu Lee Nathan C. Sheffield Stefan Gräf Mikael Huss Damian Keefe Zheng Liu Darin London Ryan M. McDaniell Yoichiro Shibata Kimberly A. Showers Jeremy M. Simon Teresa Vales Tianyuan Wang Deborah Winter Zhuzhu Zhang Neil D. Clarke Ewan Birney
... [+17 authors] ...,
Vishwanath R. Iyer
Gregory E. Crawford
Jason D. Lieb
Terrence S. Furey

First Published July 12, 2011

Efficient storage of high throughput DNA sequencing data using reference-based compression

Markus Hsi-Yang Fritz
Rasko Leinonen
Guy Cochrane
Ewan Birney

First Published January 18, 2011

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