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Families_Affected_by_Rare_Developmental_Disorders_Germline_Targeted_NanoSeq

This work aims to study clonal dynamics of pathogenic mutations in male germline using targeted NanoSeq in sperm DNA provided by fathers who have had a children with a develpmental disorder caused by a deno mutation using a custom-designed panel of ~250 genes will be used to achieve high depth coverage (aiming for ~1000X at panel sites).

Type: Other
Archive: European Genome-phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD00001016416	Targeted NanoSeq, a duplex sequencing protocol, was performed on semen-derived DNA from fathers of children with developmental disorders caused by pathogenic de novo mutations. Sequencing targeted a custom 220-gene panel designed to include developmental disorder genes, genes linked to positive selection in the male germline, and genes carrying diagnostic de novo mutations in the cohort. The data were used to quantify rare sperm mutations, paternal sperm mosaicism, age-associated mutation burden and germline positive selection.	Illumina NovaSeq 6000	1