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Method

Phased nanopore assembly with Shasta and modular graph phasing with GFAse

  • Ryan Lorig-Roach
  • Melissa Meredith
  • Jean Monlong
  • Miten Jain
  • Hugh E. Olsen
  • Brandy McNulty David Porubsky Tessa G. Montague Julian K. Lucas Chris Condon Jordan M. Eizenga Sissel Juul Sean K. McKenzie Sara E. Simmonds Jimin Park Mobin Asri Sergey Koren Evan E. Eichler Richard Axel
  • ... [+14 authors] ...,
  • Bruce Martin
  • Paolo Carnevali
  • Karen H. Miga
  • Benedict Paten
  • First Published April 16, 2024
Method

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

  • Sergey Nurk
  • Brian P. Walenz
  • Arang Rhie
  • Mitchell R. Vollger
  • Glennis A. Logsdon
  • Robert Grothe
  • ... [+1 authors] ...,
  • Karen H. Miga
  • Evan E. Eichler
  • Adam M. Phillippy
  • Sergey Koren
  • First Published August 14, 2020
Method

Transcriptional fates of human-specific segmental duplications in brain

  • Max L. Dougherty
  • Jason G. Underwood
  • Bradley J. Nelson
  • Elizabeth Tseng
  • Katherine M. Munson
  • Osnat Penn
  • Tomasz J. Nowakowski
  • Alex A. Pollen
  • Evan E. Eichler
  • First Published September 18, 2018
Method

Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation

  • Ian T. Fiddes
  • Joel Armstrong
  • Mark Diekhans
  • Stefanie Nachtweide
  • Zev N. Kronenberg
  • Jason G. Underwood David Gordon Dent Earl Thomas Keane
  • ... [+4 authors] ...,
  • Evan E. Eichler
  • David Haussler
  • Mario Stanke
  • Benedict Paten
  • First Published June 8, 2018
Method

MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals

  • Keisha D. Carlson
  • Peter H. Sudmant
  • Maximilian O. Press
  • Evan E. Eichler
  • Jay Shendure
  • Christine Queitsch
  • First Published February 6, 2015
Method

The discovery of integrated gene networks for autism and related disorders

  • Fereydoun Hormozdiari
  • Osnat Penn
  • Elhanan Borenstein
  • Evan E. Eichler
  • First Published November 5, 2014
Method

Reconstructing complex regions of genomes using long-read sequencing technology

  • John Huddleston
  • Swati Ranade
  • Maika Malig
  • Francesca Antonacci
  • Mark Chaisson
  • Lawrence Hon Peter H. Sudmant Tina A. Graves Can Alkan Megan Y. Dennis
  • ... [+5 authors] ...,
  • Richard K. Wilson
  • Stephen W. Turner
  • Jonas Korlach
  • Evan E. Eichler
  • First Published January 13, 2014
Method

Copy number variation detection and genotyping from exome sequence data

  • Niklas Krumm
  • Peter H. Sudmant
  • Arthur Ko
  • Brian J. O'Roak
  • Maika Malig
  • Bradley P. Coe
  • Aaron R. Quinlan
  • Deborah A. Nickerson
  • Evan E. Eichler
  • First Published May 14, 2012
Method

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

  • Can Alkan
  • Maria Francesca Cardone
  • Claudia Rita Catacchio
  • Francesca Antonacci
  • Stephen J. O'Brien
  • Oliver A. Ryder Stefania Purgato
  • ... [+2 authors] ...,
  • Monica Zoli
  • Giuliano Della Valle
  • Evan E. Eichler
  • Mario Ventura
  • First Published November 16, 2010
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