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Mini-Review

The paradox of R-loops: guardians of the genome or drivers of disease?

  • Shachinthaka D. Dissanayaka Mudiyanselage
  • Phillip Wulfridge
  • Kavitha Sarma
  • First Published August 6, 2025
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
Mini-Review

Revisiting models of enhancer–promoter communication in gene regulation

  • Gilad Barshad
  • Charles G. Danko
  • First Published June 2, 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
Mini-Review

Evolution of genome-wide methylation profiling technologies

  • Carolina Montano
  • Winston Timp
  • First Published April 14, 2025
Mini-Review

A Hitchhiker's Guide to long-read genomic analysis

  • Medhat Mahmoud
  • Daniel P. Agustinho
  • Fritz J. Sedlazeck
  • 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
Mini-Review

The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases

  • Giulia F. Del Gobbo
  • Kym M. Boycott
  • First Published February 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
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