Mutation Analysis

Companies Mutation Analysis

Eurofins Genomics Germany GmbH, Germany

FAST. We produce and analyze DNA & RNA Eurofins Genomics, a member of the Eurofins Group with facilities in Europe, USA and Asia, is an internationally leading provider of DNA sequencing services, genotyping services, DNA synthesis products and bioinformatics services for pharma, diagnostics, food, more

News Mutation Analysis

• DNA saturation mutagenesis: Identifying which mutations really cause disease
  

  Scientists at the Berlin Institute of Health (BIH) and Charité – Universitätsmedizin Berlin, working with colleagues from the United States, have selectively modified the control regions of 20 disease-relevant genes. This enabled them to identify precisely those modifications that have the greatest more

• DxS Expands in US with Appointment of Jane Papadaki-Markley as Sales and Marketing Director for North America

  DxS Ltd has announced the appointment of Jane Papadaki-Markley as Sales and Marketing Director as it expands in North America. Jane is based in California and will be responsible for the continued expansion of DxS’ tumour mutation analysis products in the US and Canada. Jane joins DxS from Agendia, more

• Gene elevating breast cancer risk also causes prostate cancer

  An international multi-centre research effort, including Karolinska Institutet, has identified a new genetic defect as a potential heritable breast cancer susceptibility candidate. To some extent, prostate cancer also seems to be caused by the discovered PALB2 mutation. The two major familial breas more

White papers Mutation Analysis

• Mutation Scanning Using High Resolution Melting or dHPLC: a Performance Comparison Study
  

  High Resolution Melting (HRM) is a novel and promising screening technique used for mutation analysis and detection. Its application prevents the need to sequence all the exons of a gene when looking for novel mutations. The method is therefore time- more

Publications Mutation Analysis

• Suppressor mutation analysis combined with 3D modeling explains cohesin’s capacity to hold and release DNA [Genetics]

  The heterodimeric cohesin SMC complex embraces duplex DNA and is associated with Rad21, which is cleaved in mitotic anaphase by a protease called separase/Cut1. Upon Rad21 cleavage, chromosomal DNAs are released from cohesin and segregated. We identified extragenic suppressors for separase and cohes more

• Mutation screening using formalin-fixed paraffin-embedded tissues: a stratified approach according to DNA quality

  DNA samples from formalin-fixed paraffin-embedded tissues are highly degraded with variable quality, and this imposes a big challenge for targeted sequencing due to false positives, largely caused by PCR errors and cytosine deamination. To eliminate false positives, a common practice is to validate more

• A dualistic model of primary anal canal adenocarcinoma with distinct cellular origins, etiologies, inflammatory microenvironments and mutational signatures: implications for pe ...

  Primary adenocarcinoma of the anal canal is a rare and aggressive gastrointestinal disease with unclear pathogenesis. Because of its rarity, no clear clinical practice guideline has been defined and a targeted therapeutic armamentarium has yet to be developed. The present article aimed at addressing more