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Whitepaper Icon   Whitepaper
Murine NASH model could provide insights into NASH development and progression
Researchers explore a multidisciplinary approach to addressing current NAFLD and NASH challenges.
Publication Icon   Literature - Publication Review
Expert interview: recapitulating the blood-brain barrier using in vitro hiPSC models in drug discovery
Better understand the blood-brain barrier for translational research and drug discovery in neurodegenerative diseases.
Poster Icon   Scientific Poster
Application of Whole Exome sequencing in identifying sequence variants and copy number variants in phenotypic females with disorders of sexual development (DSD)
Whole Exome Sequencing (WES) data to detect pathogenic structural variants (deletion/duplication) and sequence
Poster Icon   Scientific Poster
Experience from the First 330 Cases of Low Pass Genome Sequencing (5X) Demonstrates Clinical Utility and Provides Potential Alternative to Traditional Microarray in the Clinical Settings
CNGnome® can detect a wide range of genomic changes, including aneuploidies, microdeletion/ microduplication syndromes, intragenic CNVs and absence of heterozygosity (AOH).
Poster Icon   Scientific Poster
Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention
Highlights on CNVs and single-nucleotide variants in one assay and eliminates the need for reflex testing, near-precise identification of breakpoints
Poster Icon   Scientific Poster
Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping
Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping
Poster Icon   Scientific Poster
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using Optical Genome Mapping
This poster demonstrates that whole genome optical mapping offers a promising alternative method for FSHD1 diagnosis that is less time consuming and more accurate in estimate the number of D4Z4 units than the conventional southern blotting technique, Optical mapping could not detect rearrangements between 4q35 and 10q26 D4Z4 repeats.
Other Icon   Other
California Department of Public Health lab license
We build your confidence from our services as we proudly hold the prestigious California Department of Public Health lab license, meeting and exceeding stringent requirements.
Poster Icon   Scientific Poster
Measuring of Non-reducing Terminal Glycosaminoglycan Fragments increases specificity and differentiates Mucopolysaccharidosis Type I (MPS I) from Mucopolysaccharidosis Type II (MPS II)
This poster highlights increased specificity between MPS I and MPS II disease subtypes from measuring a characteristic fragment of accumulated GAGs compound.
Poster Icon   Scientific Poster
Insights Derived From The First 500+ Clinical Cases Run Utilizing Low Pass Genome Sequencing (LP-GS) As An Alternative To Traditional Microarray
LP-GS can detect a wide range of genomic changes, including aneuploidies, microdeletion/ microduplication syndromes, intragenic CNVs and absence of heterozygosity (AOH).
Poster Icon   Scientific Poster
Newborn Screening Second Tier Molecular Testing for Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy is Critical for Identifying True Positives
This poster demonstrates analysis of sequencing data reflexed from positive NBS of MPS I, Pompe disease and Krabbe disease and X-ALD, calculated positive rate of different genotypes including affected, carrier, pseudodeficiency and uncertain significance. NBS second tier molecular testing is becoming- one of the most economic and efficient approach to improve clinical outcomes.
Poster Icon   Scientific Poster
Utilization of Whole Genome Sequencing to Improve Diagnostic Yield in Patients with a Suspected Genetic Disorder(s)
This poster highlights on benefits of WGS for at 40x with Shorter TAT, Identification of Deletion, Duplications
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