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Your search for returned 13 results

Research

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

Mini-Review

A Hitchhiker's Guide to long-read genomic analysis

Medhat Mahmoud
Daniel P. Agustinho
Fritz J. Sedlazeck

First Published April 14, 2025

Perspective

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

Research

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

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

Resource

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

Method

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

Research

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

Research

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

Research

Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing

Sergey Aganezov
Sara Goodwin
Rachel M. Sherman
Fritz J. Sedlazeck
Gayatri Arun
Sonam Bhatia Isac Lee Melanie Kirsche Robert Wappel Melissa Kramer Karen Kostroff
... [+6 authors] ...,
David L. Spector
Winston Timp
W. Richard McCombie
Michael C. Schatz

First Published September 4, 2020

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