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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

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

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

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

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

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

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

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
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