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Simultaneous detection of genetic and copy-number variations in BRCA1/2 genes

  • Resource type: Scientific poster
  • Application: Solid tumour

Presented at the AMP 2020 virtual meeting, this poster demonstrates the capability of the SureSeq™ Breast Cancer + CNV Panel in combination with Interpret software to detect germline and mosaic CNVs.

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Simultaneous detection of genetic and copy-number variations in BRCA1/2 genes Image

Comparison of CytoSure Constitutional NGS with microarrays for CNV detection

  • Resource type: App note
  • Application: Cytogenetics & rare disease

This technical note compares performance of CytoSure Constitutional NGS and a range of microarrays for 255 research samples processed in three independent laboratories and OGT.

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Comparison of CytoSure Constitutional NGS with microarrays for CNV detection Image

A NGS solution to detect copy number variants, single nucleotide variants and loss of heterozygosity in Intellectual Disability and Developmental Delay samples

  • Resource type: Scientific poster
  • Application: Cytogenetics & rare disease

Presented at ESHG Virtual 2020, this poster outlines the results from over 200 intellectual disability and developmental research samples to demonstrate the efficiency of the CNV, SNV and LOH detection.

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A NGS solution to detect copy number variants, single nucleotide variants and loss of heterozygosity in Intellectual Disability and Developmental Delay samples Image

A new NGS assay for detecting the aberrations in Intellectual Disability and Developmental Delay samples

  • Resource type: Scientific poster
  • Application: Cytogenetics & rare disease

Presented at ACMG 2020, this poster demonstrates the capability of a novel NGS assay designed to analyse genetic aberrations, including CNVs, SNVs, Indels and LOH, in intellectual disability and developmental delay research samples.

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A new NGS assay for detecting the aberrations in Intellectual Disability and Developmental Delay samples Image

Clearance of ctDNA in triple negative and Her2 positive breast cancer patients during neoadjuvant treatment is correlated with pathological complete responses

  • Resource type: Scientific poster
  • Application: Solid tumour

The primary objective of this study was to assess ctDNA clearance during neoadjuvant treatment as a correlate to effective response to treatment, as benchmarked by clinical complete response (cCR) and pathological complete response (pCR).

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Clearance of ctDNA in triple negative and Her2 positive breast cancer patients during neoadjuvant treatment is correlated with pathological complete responses Image

Interpret NGS Analysis Software – Seamless transition from microarray to NGS in constitutional cytogenetics

  • Resource type: App note
  • Application: Cytogenetics & rare disease

Making the change from microarrays to NGS is a daunting prospect, particularly when it comes to data analysis. This app note outlines some of the key features we’ve incorporated to help make the change from arrays to NGS as painless as possible.

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Interpret NGS Analysis Software – Seamless transition from microarray to NGS in constitutional cytogenetics Image

Concurrent detection of somatic copy number alterations and gene variants (SNV/indels) in CLL samples using a targeted NGS panel

  • Resource type: Scientific poster
  • Application: Haematology

Presented at AMP 2019, this poster demonstrates the capability of SureSeq CLL CNV - 14 gene panel to overcome the challenges with detecting copy number alterations (CNAs) currently experienced and provide a possible future single test to be developed for Chronic Lymphocytic Leukaemia (CLL).

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Concurrent detection of somatic copy number alterations and gene variants (SNV/indels) in CLL samples using a targeted NGS panel Image

Improving experimental reproducibility through automated hybridisation-based NGS library preparation

  • Resource type: App note
  • Application: Haematology, Solid tumour, Cytogenetics & rare disease

In this app note, an Agilent Bravo A Automated Liquid Handling Platform was configured to run the SureSeq NGS library preparation protocol. The results demonstrate marked improvement not only in hands-on-time, but also a number of quality metrics.

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Improving experimental reproducibility through automated hybridisation-based NGS library preparation Image

Greater confidence in calling low-frequency variants – from as little as 10ng of severely formalin-compromised DNA

  • Resource type: App note
  • Application: Solid tumour

In this study, carried out in collaboration with Horizon Discovery, formalin-compromised DNA (fcDNA) samples of differing severity were repaired with the SureSeq FFPE DNA Repair Mix and sequenced using a SureSeq custom hybridisation-based panel.

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Greater confidence in calling low-frequency variants – from as little as 10ng of severely formalin-compromised DNA Image

The accurate detection by NGS of difficult to sequence genes (CALR, CEBPA, FLT3) associated with myeloid disorders using a hybridisation-based enrichment approach

  • Resource type: Scientific poster
  • Application: Haematology

Presented at AMP 2017, this poster illustrates how the excellent coverage uniformity obtained using hybridisation-based enrichment and the SureSeq myPanel NGS Custom AML Panel can be successful in sequencing traditionally difficult genes.

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The accurate detection by NGS of difficult to sequence genes (CALR, CEBPA, FLT3) associated with myeloid disorders using a hybridisation-based enrichment approach Image

The assessment by NGS of FFPE derived tumour DNA using an ovarian cancer and a custom solid tumour hybridisation-based enrichment panel approach

  • Resource type: Scientific poster
  • Application: Solid tumour

Presented at AMP 2017, this poster explains how the use of SureSeq hybridisation based panels in conjunction with the SureSeq FFPE Repair Mix provides superior uniformity of coverage compared to a PCR enrichment approach.

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The assessment by NGS of FFPE derived tumour DNA using an ovarian cancer and a custom solid tumour hybridisation-based enrichment panel approach Image

The application of a one-day hybridisation-based enrichment protocol for NGS incorporating a rapid (30 minute) hybridisation step

  • Resource type: Scientific poster
  • Application: Haematology

Presented at the 42nd Association of Genetic Technologists (AGT) 2017 annual meeting in St Louis, USA, this poster outlines how OGT has optimised a one-day hybridisation-based enrichment protocol for next-generation sequencing (NGS) incorporating a rapid 30 hybridisation step, with performance examples illustrating excellent uniformity of coverage in the detection of key CALR and JAK2 indels (including 52 bp deletions and 5 bp insertions) and FLT3 ITDs.

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The application of a one-day hybridisation-based enrichment protocol for NGS incorporating a rapid (30 minute) hybridisation step Image

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