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T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

  • Daniel Schmitz
  • Adam Ameur
  • Åsa Johansson
  • First Published September 16, 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

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

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

  • Wouter De Coster
  • Ida Höijer
  • Inge Bruggeman
  • Svenn D'Hert
  • Malin Melin
  • Adam Ameur
  • Rosa Rademakers
  • First Published August 15, 2024

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

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

Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages" > Sequence analysis in Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages

  • Jennifer F. Hughes
  • Helen Skaletsky
  • Tatyana Pyntikova
  • Natalia Koutseva
  • Terje Raudsepp
  • Laura G. Brown Daniel W. Bellott Ting-Jan Cho Shannon Dugan-Rocha Ziad Khan Colin Kremitzki Catrina Fronick Tina A. Graves-Lindsay Lucinda Fulton Wesley C. Warren Richard K. Wilson Elaine Owens James E. Womack William J. Murphy Donna M. Muzny
  • ... [+15 authors] ...,
  • Kim C. Worley
  • Bhanu P. Chowdhary
  • Richard A. Gibbs
  • David C. Page
  • First Published November 18, 2020

Macaca mulatta) based on whole-genome sequences" > The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences

  • Cheng Xue
  • Muthuswamy Raveendran
  • R. Alan Harris
  • Gloria L. Fawcett
  • Xiaoming Liu
  • Simon White Mahmoud Dahdouli David Rio Deiros Jennifer E. Below William Salerno Laura Cox Guoping Fan Betsy Ferguson Julie Horvath Zach Johnson Sree Kanthaswamy H. Michael Kubisch Dahai Liu Michael Platt David G. Smith Binghua Sun Eric J. Vallender Feng Wang Roger W. Wiseman Rui Chen
  • ... [+20 authors] ...,
  • Donna M. Muzny
  • Richard A. Gibbs
  • Fuli Yu
  • Jeffrey Rogers
  • First Published October 17, 2016

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

  • D. Nicole R. Methner
  • Steven E. Scherer
  • Katherine Welch
  • Magdalena Walkiewicz
  • Christine M. Eng
  • John W. Belmont Mark C. Powell Viktoriya Korchina Harsha Vardhan Doddapaneni Donna M. Muzny
  • ... [+5 authors] ...,
  • Richard A. Gibbs
  • Dwayne A. Wolf
  • Luis A. Sanchez
  • Roger Kahn
  • First Published July 19, 2016

The ethics of conducting molecular autopsies in cases of sudden death in the young

  • Amy L. McGuire
  • Quianta Moore
  • Mary Majumder
  • Magdalena Walkiewicz
  • Christine M. Eng
  • John W. Belmont Salma Nassef Sandra Darilek Katie Rutherford Stacey Pereira Steven E. Scherer V. Reid Sutton
  • ... [+7 authors] ...,
  • Dwayne Wolf
  • Richard A. Gibbs
  • Roger Kahn
  • Luis A. Sanchez
  • First Published July 13, 2016
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