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

Contraction disorders

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 Current Protocols

Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping

January 17, 2023

Genetic disease
Repeat expansion
Contraction disorders
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Publication Genes

Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening

October 28, 2022

Genetic disease
Repeat expansion
Contraction disorders
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Publication HGG Advances

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10

October 13, 2022

Genetic disease
Repeat expansion
Contraction disorders
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Publication Human Molecular Genetics

Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

August 1, 2022

Genetic disease
Repeat expansion
Contraction disorders
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Publication Journal of Neurology

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia

July 21, 2022

Genetic disease
Repeat expansion
Contraction disorders
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Publication medRxiv

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10

May 16, 2022

Genetic disease
Repeat expansion
Contraction disorders
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Publication Genome Research

Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.

November 29, 2021

Genetic disease
Repeat expansion
Contraction disorders
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Publication Journal of Molecular Diagnostics

Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy

August 9, 2021

Genetic disease
Repeat expansion
Contraction disorders
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