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Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Wouter Steyaert
Lydia Sagath
German Demidov
Vicente A. Yépez
Anna Esteve-Codina
Julien Gagneur Kornelia Ellwanger Ronny Derks Marjan Weiss Amber den Ouden Simone van den Heuvel Hilde Swinkels Nick Zomer Marloes Steehouwer Luke O'Gorman Galuh Astuti Kornelia Neveling Rebecca Schüle Jishu Xu Matthis Synofzik Danique Beijer Holger Hengel Ludger Schöls Kristl G. Claeys Jonathan Baets Liedewei Van de Vondel Alessandra Ferlini Rita Selvatici Heba Morsy Marwa Saeed Abd Elmaksoud Volker Straub Juliane Müller Veronica Pini Luke Perry Anna Sarkozy Irina Zaharieva Francesco Muntoni Enrico Bugiardini Kiran Polavarapu Rita Horvath Evan Reid Hanns Lochmüller Marco Spinazzi Marco Savarese Leslie Matalonga Steven Laurie Han G. Brunner Holm Graessner Sergi Beltran
... [+44 authors] ...,
Stephan Ossowski
Lisenka E.L.M. Vissers
Christian Gilissen
Alexander Hoischen

First Published March 26, 2025

Precision environmental health monitoring by longitudinal exposome and multi-omics profiling

Peng Gao
Xiaotao Shen
Xinyue Zhang
Chao Jiang
Sai Zhang
Xin Zhou
Sophia Miryam Schüssler-Fiorenza Rose
Michael Snyder

First Published June 6, 2022

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

Hagen Tilgner
Fereshteh Jahanbani
Ishaan Gupta
Paul Collier
Eric Wei
Morten Rasmussen
Michael Snyder

First Published December 1, 2017

Zea mays L.) hybrids relative to their inbred parents" > Complementation contributes to transcriptome complexity in maize (Zea mays L.) hybrids relative to their inbred parents

Anja Paschold
Yi Jia
Caroline Marcon
Steve Lund
Nick B. Larson
Cheng-Ting Yeh Stephan Ossowski
... [+2 authors] ...,
Christa Lanz
Dan Nettleton
Patrick S. Schnable
Frank Hochholdinger

First Published October 19, 2012

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

A highly integrated and complex PPARGC1A transcription factor binding network in HepG2 cells

Alexandra E. Charos
Brian D. Reed
Debasish Raha
Anna M. Szekely
Sherman M. Weissman
Michael Snyder

First Published September 5, 2012

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

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

Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle
Eurie L. Hong
Manoj Hariharan
Yong Cheng
Marc A. Schaub
Maya Kasowski Konrad J. Karczewski Julie Park
... [+3 authors] ...,
Benjamin C. Hitz
Shuai Weng
J. Michael Cherry
Michael Snyder

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

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