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Resource

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

  • Chong Li
  • Marc Jan Bonder
  • Sabriya Syed
  • Matthew Jensen
  • Mark B. Gerstein
  • Michael C. Zody Mark J.P. Chaisson Michael E. Talkowski Tobias Marschall
  • ... [+4 authors] ...,
  • Jan O. Korbel
  • Evan E. Eichler
  • Charles Lee
  • Xinghua Shi
  • First Published December 5, 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

Whole-genome bisulfite sequencing with improved accuracy and cost

  • Masako Suzuki
  • Will Liao
  • Frank Wos
  • Andrew D. Johnston
  • Justin DeGrazia
  • Jennifer Ishii
  • ... [+1 authors] ...,
  • Toby Bloom
  • Michael C. Zody
  • Soren Germer
  • John M. Greally
  • First Published August 9, 2018
Method

taxMaps: comprehensive and highly accurate taxonomic classification of short-read data in reasonable time

  • André Corvelo
  • Wayne E. Clarke
  • Nicolas Robine
  • Michael C. Zody
  • First Published March 27, 2018
Resource

GenomeVIP: a cloud platform for genomic variant discovery and interpretation

  • R. Jay Mashl
  • Adam D. Scott
  • Kuan-lin Huang
  • Matthew A. Wyczalkowski
  • Christopher J. Yoon
  • Beifang Niu Erin DeNardo Venkata D. Yellapantula Robert E. Handsaker Ken Chen Daniel C. Koboldt Kai Ye
  • ... [+7 authors] ...,
  • David Fenyö
  • Benjamin J. Raphael
  • Michael C. Wendl
  • Li Ding
  • First Published May 18, 2017
Research

Characteristics of de novo structural changes in the human genome

  • Wigard P. Kloosterman
  • Laurent C. Francioli
  • Fereydoun Hormozdiari
  • Tobias Marschall
  • Jayne Y. Hehir-Kwa
  • Abdel Abdellaoui Eric-Wubbo Lameijer Matthijs H. Moed Vyacheslav Koval Ivo Renkens Markus J. van Roosmalen Pascal Arp Lennart C. Karssen Bradley P. Coe Robert E. Handsaker Eka D. Suchiman Edwin Cuppen Djie Tjwan Thung Mitch McVey Michael C. Wendl André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth Evan E. Eichler Paul I.W. de Bakker Kai Ye Victor Guryev André Uitterlinden Cornelia M. van Duijn Morris A. Swertz Cisca Wijmenga GertJan B. van Ommen P. Eline Slagboom Dorret I. Boomsma Alexander Schönhuth
  • ... [+35 authors] ...,
  • Evan E. Eichler
  • Paul I.W. de Bakker
  • Kai Ye
  • Victor Guryev
  • First Published April 16, 2015
Resource

MuSiC: Identifying mutational significance in cancer genomes

  • Nathan D. Dees
  • Qunyuan Zhang
  • Cyriac Kandoth
  • Michael C. Wendl
  • William Schierding
  • Daniel C. Koboldt Thomas B. Mooney Matthew B. Callaway
  • ... [+3 authors] ...,
  • David Dooling
  • Elaine R. Mardis
  • Richard K. Wilson
  • Li Ding
  • First Published July 3, 2012
RESOURCE

PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data

  • Ken Chen
  • Michael D. McLellan
  • Li Ding
  • Michael C. Wendl
  • Yumi Kasai
  • Richard K. Wilson
  • Elaine R. Mardis
  • First Published April 6, 2007
LETTER

Why do human diversity levels vary at a megabase scale?

  • Ines Hellmann
  • Kay Prüfer
  • Hongkai Ji
  • Michael C. Zody
  • Svante Pääbo
  • Susan E. Ptak
  • First Published September 1, 2005
METHODS

Whole-Genome Sequence Assembly for Mammalian Genomes: Arachne 2

  • David B. Jaffe
  • Jonathan Butler
  • Sante Gnerre
  • Evan Mauceli
  • Kerstin Lindblad-Toh
  • Jill P. Mesirov
  • Michael C. Zody
  • Eric S. Lander
  • First Published January 1, 2003
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