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バイオロジクス
モノクローナル抗体、リコンビナント・タンパク質、ワクチン、標的を絞った次世代細胞・遺伝子治療など、治療アプローチを強化するために設計された高精度バイオロジクスツールで進歩を遂げましょう。
細胞・遺伝子治療
近年の細胞・遺伝子治療の成功は、次世代の先端治療薬への道を開きました。課題は残るものの、細胞・遺伝子治療研究は、CAR-T、CRISPR、ベクターなどの新しい治療法の開発・提供方法において、変革的な変化を遂げつつあります。
Functional Genomic Screening Services
Identify and characterize drug discovery targets with functional genomic screening services. Offering CRISPR knockout, CRISPR activation, CRISPR inhibition, dual screening and RNAi technologies
統合ラボオートメーション
統合されたラボの自動化によりワークフロー全体またはその一部を自動化することで、ラボのワークフローの効率が良くなり、生産性が向上し、手動での作業時間が短縮され、標準化が促進されます。
Physiological Model Solutions
Drug discovery endeavors require a deep understanding of biological systems and their response to potential therapeutics.
プレシジョン・メディシン・リサーチ
数え切れないほどの病気、特に癌は、その性質が非常に不均一であるため、これらの病気を効果的に治療したり闘ったりするためには、1つの薬物ですべてをまかなうというアプローチは現実的ではありません。
低分子創薬
数十年にわたる顧客との強い信頼関係を原動力とする創薬の経験により、Revvityは創薬ワークフローのすべての部分に対応する完全なソリューションのための創薬ツールの優れた製品ポートフォリオを開発しました。
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Scientific Poster
Testing reportedly healthy individuals for a panel of 59 medically actionably genes: are 59 genes enough?
Importance of new gene discovery and the improved understanding of disease inheritance,consider guidelines around exome/genome sequencing in the healthy population revealed 59 medically actionable variants.
Scientific Poster
Non-Invasive Prenatal Screening by Vanadis LifeCycle® Platform
Highlights on Vanadis® cfDNA Platform for Detection of T13, T18 and T21 and Sex Chromosome Abnormalities.
Scientific Poster
Ultrarapid Whole Genome Sequencing Facilitates Early Definitive Diagnosis of Rare Genetic Disorders
This comprehensive ultrarapid whole genome sequencing helped to identify different disorders including metabolic and rare disorders indicating importance of this test as first -tier diagnostic test. With a streamlined assay workflow turnaround time reduced to 5 to 8 days urWGS is highly suitable test for pediatric disorders as well as other rare genetic disorder and ultimately helps in early selection of any possible treatment options and better disease management
Scientific Poster
Whole Genome Sequencing as a Screening Tool in Healthy Population: Lesson learned from 110 cases
WGS screening test can be considered as new standard of care along with NBS and carrier status prior to family planning, risk of medically actionable conditions, medically actionable conditions, making suitable prophylactic plans, finding medical management guidelines, selecting optimal dosage of medications and adapting to a healthy lifestyle.
Scientific Poster
Case Presentation: Co-segregation of a Rare GLA Variant of Uncertain Significance within Two Multiplex Families Facilitates Variant Reclassification to Pathogenic
Co-segregation of the variant with disease in two multiplex families provides powerful evidence for its pathogenicity. These families offer seven documented cases of the variant in affected individuals, crucial for its reclassification as pathogenic. Inclusion of patient phenotypes, family history, and clinic notes aids in VOUS resolution timeline. Accurate variant classification provides confirmed genetic diagnosis and access to specialized medical care for these families.
Scientific Poster
Unveiling Noncoding DMD Variants: Synergizing RNA Sequencing and DNA Sequencing for Enhanced Molecular Diagnosis
This poster demonstrate RNA sequencing as a powerful tool, especially when integrating with DNA sequencing, for elucidating the pathogenicity of DMD variants, achieving a precise genetic diagnosis, and guiding the potential treatments in patients with clinical and pathological suspicions of DMD/BMD without definitive diagnoses after routine genetic testing.
Scientific Poster
Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene: Implications for prenatal testing and new therapeutics.
This poster highlights results emphasize the importance of utilizing breakpoint analysis of NGS data or long-read sequencing to assess the pathogenicity of CNVs detected in the DMD gene, particularly in duplications identified by carrier screening or prenatal diagnosis when there is no family history of dystrophinopathy. The precise molecular diagnosis of DMD is essential in clinical evaluation, variant classification, and therapeutics.
Scientific Poster
Identification of Multiple Diagnoses in Pediatric Patients through Genome Sequencing
This study solely utilizes genome sequencing to assess the prevalence of MGD. Findings highlight the complexity of rare diseases and underscore the critical role of a comprehensive, genome-level diagnostic approach. Even with an initial diagnosis, clinicians should ensure it fully explains the observed phenotype to guide optimal therapeutic strategies and management.
Scientific Poster
Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease
Comparison of the GLA variant profiles between the NBS cohort and the diagnostic cohort for Fabry Disease were identified
Scientific Poster
Recognizing the Promise and Potential Pitfalls of Genomic Medicine Through Routine Rapid Whole Genome Sequencing
This poster explains WGS from DBS reduces the challenges associated with sample collection from an ill newborn; Minimal processing steps result in rapid turn around time; results in deep coverage of mtDNA sequence; Increased diagnostic yield due to detection of deep intronic and cytogenomic variants; Use of DBS also allows for comprehensive biochemical testing (70+ disorders) by the same methods used for newborn screening.
Flyer
Advance your research on neurodegenerative diseases
This flyer presents the HTRF and Alpha technologies dedicated portfolio for neuroscience studies.
Other
Whole Genome Sequencing - Secondary Findings - Pharmacogenomics
Flyer contains gene list for Pharmacogenomics - secondary findings - Whole genome sequencing test.
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