High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders-Reference-Cited by-同舟云学术

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

Published:2023-04-19 Issue:6 Volume:142 Page:773-783
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Lecoquierre François^ORCID,Quenez Olivier,Fourneaux Steeve,Coutant Sophie,Vezain Myriam,Rolain Marion,Drouot Nathalie,Boland Anne,Olaso Robert,Meyer Vincent,Deleuze Jean-François,Dabbagh Dana,Gilles Isabelle,Gayet Claire,Saugier-Veber Pascale,Goldenberg Alice,Guerrot Anne-Marie,Nicolas Gaël

Funder

GIRCI nord ouest

Recherche Innovation Normandie

France Génomique National infrastructure

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-023-02553-1.pdf

Reference37 articles.

1. 100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, et al (2021) 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report. N Engl J Med 385:1868–1880. https://doi.org/10.1056/NEJMoa2035790