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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
Perspective

Diversifying the genomic data science research community

  • Rosa Alcazar
  • Maria Alvarez
  • Rachel Arnold
  • Mentewab Ayalew
  • Lyle G. Best
  • Michael C. Campbell Kamal Chowdhury Katherine E.L. Cox Christina Daulton Youping Deng Carla Easter Karla Fuller Shazia Tabassum Hakim Ava M. Hoffman Natalie Kucher Andrew Lee Joslynn Lee Jeffrey T. Leek Robert Meller Loyda B. Méndez Miguel P. Méndez-González Stephen Mosher Michele Nishiguchi Siddharth Pratap Tiffany Rolle Sourav Roy Rachel Saidi Michael C. Schatz Shurjo K. Sen James Sniezek Edu Suarez Martinez Frederick J. Tan Jennifer Vessio Karriem Watson
  • ... [+29 authors] ...,
  • Wendy Westbroek
  • Joseph Wilcox
  • Carrie Wright
  • Xianfa Xie
  • First Published July 20, 2022
Perspective

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

  • Stylianos E. Antonarakis
  • First Published March 31, 2022
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