Publications by authors named "Bart P G H van der Sanden"
Background: Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels < 20 bp) more challenging. The introduction of PacBio HiFi sequencing makes LRS also suited for detecting small variation.
View Article and Find Full Text PDFGenome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is a better first-tier genetic diagnostic test than current standard of care (SOC) by assessing the technical and clinical validity of GS for patients with neurodevelopmental disorders (NDD). We performed both GS and exome sequencing in 150 consecutive NDD patient-parent trios.
View Article and Find Full Text PDFArticle Synopsis
- Expanded short tandem repeats (STRs) are associated with about 30 human genetic disorders, but are often overlooked in standard exome sequencing (ES) diagnostic tests.* -
- This study analyzed 2,867 exomes from movement disorder patients and found potential STR length abnormalities in 38 cases; 13 were confirmed as aberrant expansions leading to molecular diagnoses.* -
- The research suggests incorporating STR analysis into routine ES interpretations could improve diagnostic yields by 0.2%, recommending it as a standard practice in genetic testing labs.*