Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Studies have demonstrated that structural variants (SV) play a substantial role in the
evolution of species and have an impact on Mendelian traits in the genome. However, unlike …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …

Cytogenetics has long represented a critical component in the clinical evaluation of
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …

Objective To assess the benefits and limitations of whole genome sequencing (WGS)
compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis …

Background Balanced chromosomal rearrangements associated with abnormal phenotype
are rare events, but may be challenging for genetic counselling, since molecular …

Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …

Point mutations and structural variants that directly disrupt the coding sequence of MEF2C
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …

Preimplantation genetic diagnosis (PGD) is widely applied in reciprocal translocation
carriers to increase the chance for a successful live birth. However, reciprocal translocation …

Structural genomic variations play an important role in human disease and phenotypic
diversity. With the rise of high-throughput sequencing tools, mate-pair/paired-end/single …