A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
Pei Y. et al, (2024), Genes (Basel), 15
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR. et al, (2023), J Med Genet, 60, 1235 - 1244
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Tooze RS. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 51 - 52
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome
Pei Y. et al, (2019), European Journal of Medical Genetics, 62, 103536 - 103536