Long-read sequencing for molecular diagnostics in constitutional disorders
Year: 2022
Type: dataset
Abstract: These are the alignment files (.bam) for specific gene regions (TRIOBP for Patient 1 and STRC for Patient 2) from PacBio long-read sequencing. These patients were referred to genetic testing for hearing loss and received an inconclusive result from the standard of care testing. Long-read sequencing was performed to infer phase without parental samples and resolve the diagnostic dilemma. This is part of the publication submitted to Human Mutation (Conlin LK et al., Long-read sequencing for molecular diagnostics in constitutional genetic disorders, Human Mutation, Submitted).
Institution: Children's Hospital of Philadelphia
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4393537112