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Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical Mapping

In cancer genetics, the ability to identify constitutive and low-allelic fraction structural variants (SVs) is crucial. Conventional karyotype and cytogenetics approaches are manually intensive. Microarrays and short-read sequencing cannot detect calls in segmental duplications and repeats, often mi...

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Bibliografiska uppgifter
I publikationen:J Biomol Tech
Huvudupphovsmän: Pang, A.W.C., Lee, J., Anantharaman, T., Lam, E.T., Hastie, A., Borodkin, M.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Association of Biomolecular Resource Facilities 2019
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6936188/
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