Long-read sequencing to resolve the parent of origin of a de novo pathogenic <i>UBE3A</i> variant.

Watson, Christopher Mark; Jackson, Lucy; Crinnion, Laura A; Bonthron, David T; Sheridan, Eamonn

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant.

Watson, Christopher Mark; Jackson, Lucy; Crinnion, Laura A; Bonthron, David T; Sheridan, Eamonn.

Affiliation

Watson CM; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK c.m.watson@leeds.ac.uk.
Jackson L; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.
Crinnion LA; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.
Bonthron DT; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.
Sheridan E; Leeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.

J Med Genet ; 59(11): 1082-1086, 2022 11.

Article in En | MEDLINE | ID: mdl-35414530

Subject(s)

Angelman Syndrome; Humans; Angelman Syndrome/diagnosis; Angelman Syndrome/genetics; Frameshift Mutation/genetics; Haplotypes; Whole Genome Sequencing; Ubiquitin-Protein Ligases/genetics

Key words

Human Genetics; Molecular Diagnostic Techniques; Nanopore Sequencing

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Angelman Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2022 Type: Article Affiliation country: United kingdom

Fulltext

XML

PubMed Links

Search on Google