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Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications

  • Judith Arres
  • Santosh Elavalli
  • Shalini Behl
  • Daniel Matias Sanchez
  • Ayesha Al Ali
  • Abdelrahman Ahmed Yehia Abdelaziz Saad Azza Attia Cyla Minas Sharika Pariyachery Shariq Ahmed Fatmah Aldhuhoori Nitu Thulasidharan Gurunath Katagi Omar Soliman Shilp Purohit Vinay Kusuma Raony Cardenas Thyago Cardoso Luis F. Paulin Philippe Sanio Joseph Mafofo Haiguo Wu Val Zvereff Albarah El-Khani
  • ... [+19 authors] ...,
  • Fahed Al Marzooqi
  • Tiago R. Magalhães
  • Fritz J. Sedlazeck
  • Javier Quilez
  • First Published February 11, 2026

A Hitchhiker's Guide to long-read genomic analysis

  • Medhat Mahmoud
  • Daniel P. Agustinho
  • Fritz J. Sedlazeck
  • First Published April 14, 2025

Unraveling the hidden complexity of cancer through long-read sequencing

  • Qiuhui Li
  • Ayse G. Keskus
  • Justin Wagner
  • Michal B. Izydorczyk
  • Winston Timp
  • Fritz J. Sedlazeck
  • ... [+1 authors] ...,
  • Alison P. Klein
  • Justin M. Zook
  • Mikhail Kolmogorov
  • Michael C. Schatz
  • First Published March 20, 2025

Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

  • Luis F. Paulin
  • Jeremy Fan
  • Kieran O'Neill
  • Erin Pleasance
  • Vanessa L. Porter
  • Steven J.M. Jones
  • Fritz J. Sedlazeck
  • First Published March 17, 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

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

  • Jonas A. Gustafson
  • Sophia B. Gibson
  • Nikhita Damaraju
  • Miranda P.G. Zalusky
  • Kendra Hoekzema
  • David Twesigomwe Lei Yang Anthony A. Snead Phillip A. Richmond Wouter De Coster Nathan D. Olson Andrea Guarracino Qiuhui Li Angela L. Miller Joy Goffena Zachary B. Anderson Sophie H.R. Storz Sydney A. Ward Maisha Sinha Claudia Gonzaga-Jauregui Wayne E. Clarke Anna O. Basile André Corvelo Catherine Reeves Adrienne Helland Rajeeva Lochan Musunuri Mahler Revsine Karynne E. Patterson Cate R. Paschal Christina Zakarian Sara Goodwin Tanner D. Jensen Esther Robb William Richard McCombie Fritz J. Sedlazeck Justin M. Zook Stephen B. Montgomery Erik Garrison Mikhail Kolmogorov Michael C. Schatz Richard N. McLaughlin Harriet Dashnow Michael C. Zody
  • ... [+38 authors] ...,
  • Matt Loose
  • Miten Jain
  • Evan E. Eichler
  • Danny E. Miller
  • First Published October 2, 2024

Enhancers with tissue-specific activity are enriched in intronic regions

  • Beatrice Borsari
  • Pablo Villegas-Mirón
  • Sílvia Pérez-Lluch
  • Isabel Turpin
  • Hafid Laayouni
  • Alba Segarra-Casas
  • Jaume Bertranpetit
  • Roderic Guigó
  • Sandra Acosta
  • First Published July 21, 2021

Optimized sample selection for cost-efficient long-read population sequencing

  • T. Rhyker Ranallo-Benavidez
  • Zachary Lemmon
  • Sebastian Soyk
  • Sergey Aganezov
  • William J. Salerno
  • Rajiv C. McCoy
  • Zachary B. Lippman
  • Michael C. Schatz
  • Fritz J. Sedlazeck
  • First Published April 2, 2021

SARS-CoV-2 genomic diversity and the implications for qRT-PCR diagnostics and transmission

  • Nicolae Sapoval
  • Medhat Mahmoud
  • Michael D. Jochum
  • Yunxi Liu
  • R.A. Leo Elworth
  • Qi Wang Dreycey Albin Huw A. Ogilvie Michael D. Lee Sonia Villapol Kyle M. Hernandez Irina Maljkovic Berry Jonathan Foox Afshin Beheshti Krista Ternus Kjersti M. Aagaard
  • ... [+11 authors] ...,
  • David Posada
  • Christopher E. Mason
  • Fritz J. Sedlazeck
  • Todd J. Treangen
  • First Published February 18, 2021

Complex mosaic structural variations in human fetal brains

  • Shobana Sekar
  • Livia Tomasini
  • Christos Proukakis
  • Taejeong Bae
  • Logan Manlove
  • Yeongjun Jang Soraya Scuderi Bo Zhou Maria Kalyva Anahita Amiri Jessica Mariani
  • ... [+6 authors] ...,
  • Fritz J. Sedlazeck
  • Alexander E. Urban
  • Flora M. Vaccarino
  • Alexej Abyzov
  • First Published October 29, 2020
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