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Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

  • Susan M. Hiatt
  • James M.J. Lawlor
  • Lori H. Handley
  • Donald R. Latner
  • Zachary T. Bonnstetter
  • Candice R. Finnila Michelle L. Thompson Lori Beth Boston Melissa Williams Ivan Rodriguez Nunez Jerry Jenkins Whitley V. Kelley E. Martina Bebin Michael A. Lopez Anna C.E. Hurst
  • ... [+10 authors] ...,
  • Bruce R. Korf
  • Jeremy Schmutz
  • Jane Grimwood
  • Gregory M. Cooper
  • First Published September 19, 2024

Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs

  • Ashlyn G. Anderson
  • Belle A. Moyers
  • Jacob M. Loupe
  • Ivan Rodriguez-Nunez
  • Stephanie A. Felker
  • James M.J. Lawlor William E. Bunney Blynn G. Bunney Preston M. Cartagena Adolfo Sequeira Stanley J. Watson
  • ... [+6 authors] ...,
  • Huda Akil
  • Eric M. Mendenhall
  • Gregory M. Cooper
  • Richard M. Myers
  • First Published August 16, 2024

cis-regulatory elements" > Probabilistic association of differentially expressed genes with cis-regulatory elements

  • Brian S. Roberts
  • Ashlyn G. Anderson
  • E. Christopher Partridge
  • Gregory M. Cooper
  • Richard M. Myers
  • First Published April 17, 2024

Analyzing rare mutations in metagenomes assembled using long and accurate reads

  • Marcus W. Fedarko
  • Mikhail Kolmogorov
  • Pavel A. Pevzner
  • First Published November 23, 2022

Fast and accurate mapping of long reads to complete genome assemblies with VerityMap

  • Andrey V. Bzikadze
  • Alla Mikheenko
  • Pavel A. Pevzner
  • First Published November 15, 2022

Automated annotation of human centromeres with HORmon

  • Olga Kunyavskaya
  • Tatiana Dvorkina
  • Andrey V. Bzikadze
  • Ivan A. Alexandrov
  • Pavel A. Pevzner
  • First Published May 11, 2022

Gene prediction in the immunoglobulin loci

  • Vikram Sirupurapu
  • Yana Safonova
  • Pavel A. Pevzner
  • First Published May 11, 2022

Variations in antibody repertoires correlate with vaccine responses

  • Yana Safonova
  • Sung Bong Shin
  • Luke Kramer
  • James Reecy
  • Corey T. Watson
  • Timothy P.L. Smith
  • Pavel A. Pevzner
  • First Published March 31, 2022

Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands

  • Brian S. Roberts
  • E. Christopher Partridge
  • Bryan A. Moyers
  • Vikram Agarwal
  • Kimberly M. Newberry
  • Beth K. Martin
  • Jay Shendure
  • Richard M. Myers
  • Gregory M. Cooper
  • First Published April 20, 2021

V(DD)J recombination is an important and evolutionarily conserved mechanism for generating antibodies with unusually long CDR3s

  • Yana Safonova
  • Pavel A. Pevzner
  • First Published September 18, 2020
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