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Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.

Dennis WittUlrike FaustGertrud Strobl-WildemannMarc SturmRebecca BuchertTheresia ZulegerJakob AdmardNicolas CasadeiStephan OssowskiTobias B HaackOlaf RießChristopher Schroeder
Published in: Molecular genetics & genomic medicine (2023)
This case illustrates the advantages of clinical genome sequencing in detecting structural variants compared with current diagnostic approaches. Although structural variants are rare in Lynch syndrome families, they seem to be underreported, in part because of technical challenges. Clinical genome sequencing offers a comprehensive genetic characterization detecting a wide range of genetic variants.
Keyphrases
  • genome wide
  • single cell
  • copy number
  • gene expression