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Artificial intelligence and machine learning in cell-free-DNA-based diagnostics

  • W.H. Adrian Tsui
  • Spencer C. Ding
  • Peiyong Jiang
  • Y.M. Dennis Lo
  • First Published January 22, 2025

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

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

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

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

Detection and characterization of jagged ends of double-stranded DNA in plasma

  • Peiyong Jiang
  • Tingting Xie
  • Spencer C. Ding
  • Ze Zhou
  • Suk Hang Cheng
  • Rebecca W.Y. Chan Wing-Shan Lee Wenlei Peng John Wong Vincent W.S. Wong Henry L.Y. Chan Stephen L. Chan Liona C.Y. Poon
  • ... [+8 authors] ...,
  • Tak Y. Leung
  • K.C. Allen Chan
  • Rossa W.K. Chiu
  • Y.M. Dennis Lo
  • First Published August 14, 2020

Orientation-aware plasma cell-free DNA fragmentation analysis in open chromatin regions informs tissue of origin

  • Kun Sun
  • Peiyong Jiang
  • Suk Hang Cheng
  • Timothy H.T. Cheng
  • John Wong
  • Vincent W.S. Wong Simon S.M. Ng Brigette B.Y. Ma Tak Y. Leung Stephen L. Chan Tony S.K. Mok Paul B.S. Lai Henry L.Y. Chan
  • ... [+8 authors] ...,
  • Hao Sun
  • K.C. Allen Chan
  • Rossa W.K. Chiu
  • Y.M. Dennis Lo
  • First Published February 26, 2019

Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data

  • John Huddleston
  • Mark J.P. Chaisson
  • Karyn Meltz Steinberg
  • Wes Warren
  • Kendra Hoekzema
  • David Gordon Tina A. Graves-Lindsay Katherine M. Munson Zev N. Kronenberg Laura Vives Paul Peluso Matthew Boitano
  • ... [+7 authors] ...,
  • Chen-Shin Chin
  • Jonas Korlach
  • Richard K. Wilson
  • Evan E. Eichler
  • First Published January 2, 2018

Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

  • Mario Ventura
  • Claudia R. Catacchio
  • Saba Sajjadian
  • Laura Vives
  • Peter H. Sudmant
  • Tomas Marques-Bonet
  • Tina A. Graves
  • Richard K. Wilson
  • Evan E. Eichler
  • First Published September 1, 2017

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

  • Valerie A. Schneider
  • Tina Graves-Lindsay
  • Kerstin Howe
  • Nathan Bouk
  • Hsiu-Chuan Chen
  • Paul A. Kitts Terence D. Murphy Kim D. Pruitt Françoise Thibaud-Nissen Derek Albracht Robert S. Fulton Milinn Kremitzki Vincent Magrini Chris Markovic Sean McGrath Karyn Meltz Steinberg Kate Auger William Chow Joanna Collins Glenn Harden Timothy Hubbard Sarah Pelan Jared T. Simpson Glen Threadgold James Torrance Jonathan M. Wood Laura Clarke Sergey Koren Matthew Boitano Paul Peluso Heng Li Chen-Shan Chin Adam M. Phillippy Richard Durbin
  • ... [+29 authors] ...,
  • Richard K. Wilson
  • Paul Flicek
  • Evan E. Eichler
  • Deanna M. Church
  • First Published April 10, 2017
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