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Your search for returned 11 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

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

Analysis of a cell-free DNA–based cancer screening cohort links fragmentomic profiles, nuclease levels, and plasma DNA concentrations

Yasine Malki
Guannan Kang
W.K. Jacky Lam
Qing Zhou
Suk Hang Cheng
Peter P.H. Cheung Jinyue Bai Ming Lok Chan Chui Ting Lee Wenlei Peng Yiqiong Zhang Wanxia Gai Winsome W.S. Wong Mary-Jane L. Ma Wenshuo Li Xinzhou Xu Zhuoran Gao Irene O.L. Tse Huimin Shang
... [+14 authors] ...,
L.Y. Lois Choy
Peiyong Jiang
K.C. Allen Chan
Y.M. Dennis Lo

First Published November 27, 2024

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

Genomic origin, fragmentomics, and transcriptional properties of long cell-free DNA molecules in human plasma

Huiwen Che
Peiyong Jiang
L.Y. Lois Choy
Suk Hang Cheng
Wenlei Peng
Rebecca W.Y. Chan Jing Liu Qing Zhou W.K. Jacky Lam Stephanie C.Y. Yu So Ling Lau Tak Y. Leung John Wong Vincent Wai-Sun Wong
... [+9 authors] ...,
Grace L.H. Wong
Stephen L. Chan
K.C. Allen Chan
Y.M. Dennis Lo

First Published February 26, 2024

Research

Nuclease deficiencies alter plasma cell-free DNA methylation profiles

Diana S.C. Han
Meng Ni
Rebecca W.Y. Chan
Danny K.L. Wong
Linda T. Hiraki
Stefano Volpi Peiyong Jiang
... [+2 authors] ...,
Kathy O. Lui
K.C. Allen Chan
Rossa W.K. Chiu
Y.M. Dennis Lo

First Published September 1, 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

Research

Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line

Maria Nattestad
Sara Goodwin
Karen Ng
Timour Baslan
Fritz J. Sedlazeck
Philipp Rescheneder Tyler Garvin Han Fang James Gurtowski Elizabeth Hutton Elizabeth Tseng Chen-Shan Chin Timothy Beck Yogi Sundaravadanam Melissa Kramer Eric Antoniou
... [+11 authors] ...,
John D. McPherson
James Hicks
W. Richard McCombie
Michael C. Schatz

First Published June 28, 2018

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