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Epigenetic characterization of pseudogenes across human tissues

Yunzhe Jiang
Beatrice Borsari
Mark Gerstein

First Published April 15, 2026

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing

Kristine Bilgrav Saether
Angelo Salazar Mantero
Marlene Ek
Maria Pettersson
Elisabeth Syk Lundberg
Christopher M. Grochowski
Claudia M.B. Carvalho
Jesper Eisfeldt
Anna Lindstrand

First Published March 25, 2026

A map of enhancer regions in primary human neural progenitor cells using capture STARR-seq

Sophia C. Gaynor-Gillett
Lijun Cheng
Manman Shi
Jason Liu
Gaoyuan Wang
Megan Spector Qiuyu Guo Le Qi Mary Flaherty Martha Wall Ahyeon Hwang Mengting Gu Zhanlin Chen Yuhang Chen Jennifer R. Moran Jing Zhang
... [+11 authors] ...,
Donghoon Lee
Mark Gerstein
Daniel Geschwind
Kevin P. White

First Published July 11, 2025

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Kristine Bilgrav Saether
Jesper Eisfeldt
Jesse D. Bengtsson
Ming Yin Lun
Christopher M. Grochowski
Medhat Mahmoud Hsiao-Tuan Chao Jill A. Rosenfeld Pengfei Liu Marlene Ek Jakob Schuy Adam Ameur Hongzheng Dai James Paul Hwang Fritz J. Sedlazeck Weimin Bi Ronit Marom
... [+12 authors] ...,
Josephine Wincent
Ann Nordgren
Claudia M.B. Carvalho
Anna Lindstrand

First Published November 1, 2024

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing

Jesper Eisfeldt
Edward J. Higginbotham
Felix Lenner
Jennifer Howe
Bridget A. Fernandez
Anna Lindstrand
Stephen W. Scherer
Lars Feuk

First Published October 29, 2024

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities

Jesper Eisfeldt
Adam Ameur
Felix Lenner
Esmee Ten Berk de Boer
Marlene Ek
Josephine Wincent Raquel Vaz Jesper Ottosson Tord Jonson Sofie Ivarsson Sofia Thunström Alexandra Topa Simon Stenberg Anna Rohlin Anna Sandestig Margareta Nordling Pia Palmebäck Magnus Burstedt Frida Nordin Eva-Lena Stattin Maria Sobol Panagiotis Baliakas Marie-Louise Bondeson Ida Höijer Kristine Bilgrav Saether Lovisa Lovmar
... [+21 authors] ...,
Hans Ehrencrona
Malin Melin
Lars Feuk
Anna Lindstrand

First Published October 29, 2024

Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships" > Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships

Michelle Kudron
Louis Gevirtzman
Alec Victorsen
Bridget C. Lear
Jiahao Gao
Jinrui Xu Swapna Samanta Emily Frink Adri Tran-Pearson Chau Huynh Dionne Vafeados Ann Hammonds William Fisher Martha Wall Greg Wesseling Vanessa Hernandez Zhichun Lin Mary Kasparian Kevin White Ravi Allada Mark Gerstein
... [+16 authors] ...,
LaDeana Hillier
Susan E. Celniker
Valerie Reinke
Robert H. Waterston

First Published October 22, 2024

Accurate sequencing of DNA motifs able to form alternative (non-B) structures

Matthias H. Weissensteiner
Marzia A. Cremona
Wilfried M. Guiblet
Nicholas Stoler
Robert S. Harris
Monika Cechova
... [+1 authors] ...,
Kristin A. Eckert
Francesca Chiaromonte
Yi-Fei Huang
Kateryna D. Makova

First Published July 11, 2023

Selection and thermostability suggest G-quadruplexes are novel functional elements of the human genome

Wilfried M. Guiblet
Michael DeGiorgio
Xiaoheng Cheng
Francesca Chiaromonte
Kristin A. Eckert
Yi-Fei Huang
Kateryna D. Makova

First Published June 29, 2021

Long-read sequencing technology indicates genome-wide effects of non-B DNA on polymerization speed and error rate

Wilfried M. Guiblet
Marzia A. Cremona
Monika Cechova
Robert S. Harris
Iva Kejnovská
Eduard Kejnovsky
Kristin Eckert
Francesca Chiaromonte
Kateryna D. Makova

First Published November 6, 2018

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