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Families_Affected_by_Rare_Developmental_Disorders_WGS

This work aims to study transmission of pathogenic mutations using trio WGS of DNA provided by families with a child with a developmental disorder caused by a de novo mutation.

Type: Whole Genome Sequencing
Archive: European Genome-phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD00001016417	This work aims to study transmission of pathogenic mutations using trio WGS of DNA provided by families with a child with a developmental disorder caused by a de novo mutation. WGS was performed on blood samples from mother, father and offspring. Buccal samples were used where blood samples were not available.	Illumina NovaSeq 6000	1