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Perspective

Drosophila facilitate classification of variants of uncertain significance associated with rare diseases" > Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases

  • Jung-Wan Mok
  • Shelley B. Gibson
  • Haley A. Dostalik
  • Shinya Yamamoto
  • First Published June 4, 2025
Perspective

The impact of long-read sequencing on human population-scale genomics

  • Tobias Rausch
  • Tobias Marschall
  • Jan O. Korbel
  • First Published April 14, 2025
Perspective

Unraveling the hidden complexity of cancer through long-read sequencing

  • Qiuhui Li
  • Ayse G. Keskus
  • Justin Wagner
  • Michal B. Izydorczyk
  • Winston Timp
  • Fritz J. Sedlazeck
  • ... [+1 authors] ...,
  • Alison P. Klein
  • Justin M. Zook
  • Mikhail Kolmogorov
  • Michael C. Schatz
  • First Published March 20, 2025
Perspective

Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation

  • Carolina Monzó
  • Adam Frankish
  • Ana Conesa
  • First Published March 3, 2025
Perspective

Challenges in identifying mRNA transcript starts and ends from long-read sequencing data

  • Ezequiel Calvo-Roitberg
  • Rachel F. Daniels
  • Athma A. Pai
  • First Published November 20, 2024
Perspective

Ribosome decision graphs for the representation of eukaryotic RNA translation complexity

  • Jack A.S. Tierney
  • Michał Świrski
  • Håkon Tjeldnes
  • Jonathan M. Mudge
  • Joanna Kufel
  • Nicola Whiffin
  • Eivind Valen
  • Pavel V. Baranov
  • First Published May 7, 2024
Perspective

Why community consultation matters in genomic research benefit-sharing models

  • Sarah LeBaron von Baeyer
  • Rebecca Crocker
  • Rindra Rakotoarivony
  • Jean Freddy Ranaivoarisoa
  • Germain Jules Spiral
  • Stephane Castel Andrew Farnum
  • ... [+2 authors] ...,
  • Holly Vance
  • Noah Collins
  • Keolu Fox
  • Kaja Wasik
  • First Published January 31, 2024
Perspective

Challenges and considerations for reproducibility of STARR-seq assays

  • Maitreya Das
  • Ayaan Hossain
  • Deepro Banerjee
  • Craig Alan Praul
  • Santhosh Girirajan
  • First Published May 2, 2023
RECOMB 2022 Special/Methods

Learning probabilistic protein–DNA recognition codes from DNA-binding specificities using structural mappings

  • Joshua L. Wetzel
  • Kaiqian Zhang
  • Mona Singh
  • First Published September 19, 2022
RECOMB 2022 Special/Methods

Assembler artifacts include misassembly because of unsafe unitigs and underassembly because of bidirected graphs

  • Amatur Rahman
  • Paul Medvedev
  • First Published July 27, 2022
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