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Luke O'Gorman
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:
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert
,
Lydia Sagath
,
German Demidov
,
Vicente A. Yépez
,
Anna Esteve-Codina
,
Julien Gagneur
,
Kornelia Ellwanger
,
Ronny Derks
,
Marjan Weiss
,
Amber den Ouden
,
Simone van den Heuvel
,
Hilde Swinkels
,
Nick Zomer
,
Marloes Steehouwer
,
Luke O'Gorman
,
Galuh Astuti
,
Kornelia Neveling
,
Rebecca Schüle
,
Jishu Xu
,
Matthis Synofzik
,
Danique Beijer
,
Holger Hengel
,
Ludger Schöls
,
Kristl G. Claeys
,
Jonathan Baets
,
Liedewei Van de Vondel
,
Alessandra Ferlini
,
Rita Selvatici
,
Heba Morsy
,
Marwa Saeed Abd Elmaksoud
,
Volker Straub
,
Juliane Müller
,
Veronica Pini
,
Luke Perry
,
Anna Sarkozy
,
Irina Zaharieva
,
Francesco Muntoni
,
Enrico Bugiardini
,
Kiran Polavarapu
,
Rita Horvath
,
Evan Reid
,
Hanns Lochmüller
,
Marco Spinazzi
,
Marco Savarese
,
Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE
,
Leslie Matalonga
,
Steven Laurie
,
Han G. Brunner
,
Holm Graessner
,
Sergi Beltran
,
Stephan Ossowski
,
Lisenka E.L.M. Vissers
,
Christian Gilissen
,
Alexander Hoischen
,
and
on behalf of the Solve-RD consortium
Genome Res.
April 2025
35
:
755
-
768
;
Published in Advance
March 26, 2025
,
doi:
10.1101/gr.279414.124
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Single-cell gene signature scoring
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Short tandem repeat genotyping using long reads
Spectral component approach for recent population structure
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