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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

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

  • Wouter De Coster
  • Ida Höijer
  • Inge Bruggeman
  • Svenn D'Hert
  • Malin Melin
  • Adam Ameur
  • Rosa Rademakers
  • First Published August 15, 2024

C. Thomas Caskey (1938–2022)

  • Richard A. Gibbs
  • Aravinda Chakravarti
  • Evan E. Eichler
  • Eric D. Green
  • Richard M. Myers
  • Anne C. Ferguson-Smith
  • Kateryna D. Makova
  • Hillary E. Sussman
  • First Published February 17, 2022

Deborah A. Nickerson (1954 –2021)

  • Aravinda Chakravarti
  • Evan E. Eichler
  • Richard A. Gibbs
  • Eric D. Green
  • Richard M. Myers
  • Hillary E. Sussman
  • First Published January 24, 2022

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • Sumantra Chatterjee
  • Kameko M. Karasaki
  • Lauren E. Fries
  • Ashish Kapoor
  • Aravinda Chakravarti
  • First Published November 15, 2021

Sequence-based correction of barcode bias in massively parallel reporter assays

  • Dongwon Lee
  • Ashish Kapoor
  • Changhee Lee
  • Michael Mudgett
  • Michael A. Beer
  • Aravinda Chakravarti
  • First Published July 20, 2021

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

  • Wouter De Coster
  • Peter De Rijk
  • Arne De Roeck
  • Tim De Pooter
  • Svenn D'Hert
  • Mojca Strazisar
  • Kristel Sleegers
  • Christine Van Broeckhoven
  • First Published June 11, 2019

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • Dongwon Lee
  • Ashish Kapoor
  • Alexias Safi
  • Lingyun Song
  • Marc K. Halushka
  • Gregory E. Crawford
  • Aravinda Chakravarti
  • First Published August 23, 2018

Genomic contributions to Mendelian disease

  • Aravinda Chakravarti
  • First Published May 2, 2011

Human embryonic stem cells have a unique epigenetic signature

  • Marina Bibikova
  • Eugene Chudin
  • Bonnie Wu
  • Lixin Zhou
  • Eliza Wickham Garcia
  • Ying Liu Soojung Shin Todd W. Plaia Jonathan M. Auerbach Dan E. Arking Rodolfo Gonzalez Jeremy Crook Bruce Davidson Thomas C. Schulz Allan Robins Aparna Khanna Peter Sartipy Johan Hyllner Padmavathy Vanguri Smita Savant-Bhonsale Alan K. Smith Aravinda Chakravarti Anirban Maitra
  • ... [+18 authors] ...,
  • Mahendra Rao
  • David L. Barker
  • Jeanne F. Loring
  • Jian-Bing Fan
  • First Published August 9, 2006
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