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Research

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
Research

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
Research

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
Research

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
Resource

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
Method

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
Research

Characterization of human transcription factor function and patterns of gene regulation in HepG2 cells

  • Belle A. Moyers
  • E. Christopher Partridge
  • Mark Mackiewicz
  • Michael J. Betti
  • Roshan Darji
  • Sarah K. Meadows Kimberly M. Newberry
  • ... [+2 authors] ...,
  • Laurel A. Brandsmeier
  • Barbara J. Wold
  • Eric M. Mendenhall
  • Richard M. Myers
  • First Published October 18, 2023
Resource

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
In memoriam

C. Thomas Caskey (1938–2022)

  • Richard A. Gibbs
  • Aravinda Chakravarti
  • Evan E. Eichler
  • Eric D. Green
  • Richard M. Myers
  • Anne C. Ferguson-Smith
  • Kateryna D. Makova
  • Hillary E. Sussman
  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Richard A. Gibbs
  • Eric D. Green
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published January 24, 2022
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