Filter results by:
Author
Publication date
Article type

Filter by Article type

Your search for returned 28 results

Save search
Order by:
Show per page
Editorial

Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases

  • Ana Conesa
  • Alexander Hoischen
  • Fritz J. Sedlazeck
  • First Published April 14, 2025
Research

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
Research

Optical genome mapping enables accurate testing of large repeat expansions

  • Bart van der Sanden
  • Kornelia Neveling
  • Syukri Shukor
  • Michael D. Gallagher
  • Joyce Lee
  • Stephanie L. Burke Maartje Pennings Ronald van Beek Michiel Oorsprong Ellen Kater-Baats Eveline Kamping Alide A. Tieleman Nicol C. Voermans Ingrid E. Scheffer Jozef Gecz Mark A. Corbett Lisenka E.L.M. Vissers
  • ... [+12 authors] ...,
  • Andy Wing Chun Pang
  • Alex Hastie
  • Erik-Jan Kamsteeg
  • Alexander Hoischen
  • First Published March 20, 2025
Research

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches

  • Merel Stemerdink
  • Tabea Riepe
  • Nick Zomer
  • Renee Salz
  • Michael Kwint
  • Jaap Oostrik Raoul Timmermans Barbara Ferrari Stefano Ferrari Alfredo Dueñas Rey Emma Delanote Suzanne E. de Bruijn Hannie Kremer Susanne Roosing Frauke Coppieters Alexander Hoischen
  • ... [+11 authors] ...,
  • Frans P.M. Cremers
  • Peter A.C. ‘t Hoen
  • Erwin van Wijk
  • Erik de Vrieze
  • First Published March 4, 2025
Editorial

Revolutionizing genomics and medicine—one long molecule at a time

  • Ana Conesa
  • Alexander Hoischen
  • Fritz J. Sedlazeck
  • First Published November 20, 2024
Method

Analyzing rare mutations in metagenomes assembled using long and accurate reads

  • Marcus W. Fedarko
  • Mikhail Kolmogorov
  • Pavel A. Pevzner
  • First Published November 23, 2022
Method

Fast and accurate mapping of long reads to complete genome assemblies with VerityMap

  • Andrey V. Bzikadze
  • Alla Mikheenko
  • Pavel A. Pevzner
  • First Published November 15, 2022
Method

Automated annotation of human centromeres with HORmon

  • Olga Kunyavskaya
  • Tatiana Dvorkina
  • Andrey V. Bzikadze
  • Ivan A. Alexandrov
  • Pavel A. Pevzner
  • First Published May 11, 2022
Method

Gene prediction in the immunoglobulin loci

  • Vikram Sirupurapu
  • Yana Safonova
  • Pavel A. Pevzner
  • First Published May 11, 2022
Method

Variations in antibody repertoires correlate with vaccine responses

  • Yana Safonova
  • Sung Bong Shin
  • Luke Kramer
  • James Reecy
  • Corey T. Watson
  • Timothy P.L. Smith
  • Pavel A. Pevzner
  • First Published March 31, 2022
Show per page