Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51201
Abstract: The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without… read more here.
Keywords: whole genome; long read; genetic diagnosis; read whole ... See more keywords
Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Human Genetics"
DOI: 10.1038/s10038-018-0551-7
Abstract: Long-read sequencing technology is now capable of reading single-molecule DNA with an average read length of more than 10 kb, fully enabling the coverage of large structural variations (SVs). This advantage may pave the way for… read more here.
Keywords: whole genome; long read; smrt sequencing; read whole ... See more keywords
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101752
Abstract: New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a… read more here.
Keywords: short read; inversion chromosome; genome sequencing; homozygous inversion ... See more keywords