Reveal all classes of structural variants using Bionano’s optical genome mapping Stratys™ System. Explore the Stratysphere!

Genetic disease

Publication Bone

X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant

April 13, 2023

Genetic disease
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Publication Nature Communications

FOXI3 pathogenic variants cause one form of craniofacial microsomia

April 11, 2023

Genetic disease
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Publication Genetics in Medicine

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

March 31, 2023

Genetic disease
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Publication Frontiers in Genetics

Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing

March 31, 2023

Genetic disease
Reproductive disorders
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Publication Haemophilia

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping

March 10, 2023

Genetic disease
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Publication Frontiers in Cell and Developmental Biology

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

February 28, 2023

Genetic disease
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Publication Journal of Molecular Diagnostics

Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

February 22, 2023

Genetic disease
Repeat expansion
Contraction disorders
Neurodevelopmental disorders
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Publication Science Advances

DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose

February 17, 2023

Genetic disease
Repeat expansion
Contraction disorders
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Publication Human Genetics

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping

February 17, 2023

Genetic disease
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Publication Current Protocols

Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping

January 17, 2023

Genetic disease
Repeat expansion
Contraction disorders
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