Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga, Carles Hernandez-Ferrer, Davide Piscia, Solve RD SNV Indel Working Group, Rebecca Schuele, Matthis Synofzik, Ana Topf, Lisenka E. L. M. Vissers, Richarda de Voer, Solve RD DITF GENTURIS, Solve-RD DITF-ITHACA, Solve RD DITF-euroNMD, Solve-RD-DITF-RND, Raul Tonda, Steven Laurie, Marcos Fernandez-Callejo, Daniel Pico, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto CorvoRicky Joshi, Hector Diez, Ivo Gut, Alexander Hoischen, Holm Graessner, Sergi Beltran*, Solve-RD Consortia, Han Brunner

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

7 Citations (Web of Science)
Original languageEnglish
Pages (from-to)1337-1347
Number of pages11
JournalEuropean Journal of Human Genetics
Volume29
Issue number9
DOIs
Publication statusPublished - Sep 2021

Keywords

  • MEDICAL GENETICS
  • AMERICAN-COLLEGE
  • EXOME
  • INHERITANCE
  • VARIANTS

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