Paper Details

Paper Title

Recommendations for whole genome sequencing in diagnostics for rare diseases.

Paper Journal Title

Eur J Hum Genet

Paper Citation Count

Paper Publication Year

2022

Bio Mention

Single Nucleotide Variants, Structural Variants, gene panels, germline variants, indels, rare diseases, repeat

Mesh Descriptor

Author Name	Affiliation
Erika Souche	Center for Human Genetics
John W Belmont	Inc., Baylor College of Medicine
Christian Gilissen	Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre
Amin Ardeshirdavani
Marielle E van Gijn	University Medical Center Groningen, University Groningen
Jill Clayton-Smith	University of Manchester, St Mary's Hospital
Jill Clayton-Smith	Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester
Nicole de Leeuw	Radboud University Medical Center
Helen V Firth	Dept of Clinical Genetics, Cambridge University Hospitals
Gert Matthijs	Center for Human Genetics
Gert Matthijs	Center for Human Genetics

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