Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
In it for the long run: perspectives on exploiting long-read sequencing in livestock for population scale studies of structural variants
TV Nguyen, CJ Vander Jagt, J Wang… - Genetics Selection …, 2023 - Springer
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 …
evolution of species and have an impact on Mendelian traits in the genome. However, unlike …
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …
characterization has largely been restricted to cytogenetic resolution. We explored the …
Guiding the global evolution of cytogenetic testing for hematologic malignancies
Cytogenetics has long represented a critical component in the clinical evaluation of
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …
Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies
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 …
compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis …
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental …
C Schluth-Bolard, F Diguet, N Chatron… - Journal of Medical …, 2019 - jmg.bmj.com
Background Balanced chromosomal rearrangements associated with abnormal phenotype
are rare events, but may be challenging for genetic counselling, since molecular …
are rare events, but may be challenging for genetic counselling, since molecular …
[HTML][HTML] Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics …
G Raca, C Astbury, A Behlmann, MJ De Castro… - Genetics in …, 2023 - Elsevier
Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Point mutations and structural variants that directly disrupt the coding sequence of MEF2C
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However …
Reciprocal translocation carrier diagnosis in preimplantation human embryos
L Hu, D Cheng, F Gong, C Lu, Y Tan, K Luo, X Wu… - …, 2016 - thelancet.com
Preimplantation genetic diagnosis (PGD) is widely applied in reciprocal translocation
carriers to increase the chance for a successful live birth. However, reciprocal translocation …
carriers to increase the chance for a successful live birth. However, reciprocal translocation …
ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation
T Sante, S Vergult, PJ Volders, WP Kloosterman… - PloS one, 2014 - journals.plos.org
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 …
diversity. With the rise of high-throughput sequencing tools, mate-pair/paired-end/single …