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Rebecca Wilkes's Articles

AMSBIO have designed The TUNR Flexible Gene Editing System

AMSBIO TUNR kits allows you to precisely tune gene expression from 100% all the way down to complete knockout, model ranges of gene expression reflecting diversity in patient populations and knockdown essential genes where knockout would result in lethality. In addition, a kit is available that allows you to control endogenous gene expression enabling elimination of artifacts from ectopic expression. The TUNR Flexible Gene Editing System for Endogenous Genes is designed to generate four cell lines or animal models with four different levels of knockdown of your endogenous gene of interest. The TUNR Targeted Transgenic kit enables you to insert your gene of interest under TUNR control into the AAVS1 locus. AAVS1 is a safe place to integrate transgenes, allowing predictable expression from a locus known not to alter the expression of other genes or have otherwise negative effects on the cell. The TUNR Plasmid-Delivered Transgenes kit allows you to control the expression of a transgene. Using the kit, y ...

Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

Disease associated chromosomal rearrangements often have break points located within disease causing genes or in their vicinity. The purpose of this study is to characterize a balanced reciprocal translocation in a girl with intellectual disability and seizures by positional cloning and whole genome sequencing. The translocation was identification by G- banding and confirmed by WCP FISH. Fine mapping using BAC clones and whole genome sequencing using Oxford nanopore long read sequencing technology for a 1.46 X coverage of the genome was done. The positional cloning showed split signals with BAC RP11-943 J20. Long read sequencing analysis of chimeric reads carrying parts of chromosomes X and 20 helped to identify the breakpoints to be in intron 2 of ARHGEF9 gene on Xp11.1 and on 20p13 between RASSF2 and SLC23A2 genes. This is the first report of translocation which successfully ...

Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia

We report a customized gene panel assay based on multiplex long-PCR followed by third generation sequencing on nanopore technology (MinION), designed to analyze five frequently mutated genes in chronic lymphocytic leukemia (CLL): TP53, NOTCH1, BIRC3, SF3B1 and MYD88. For this purpose, 12 patients were selected according to specific cytogenetic and molecular features significantly associated with their mutational status. In addition, simultaneous analysis of the targets genes was performed by molecular assays or Sanger Sequencing. Data analysis included mapping to the GRCh37 human reference genome, variant calling and annotation, and average sequencing depth/error rate analysis. The sequencing depth resulted on average higher for smaller amplicons, and the final breadth of coverage of the panel was 94.1%. The error rate was about 6% and 2% for insertions/deletions and single nucleotide variants, respectively. Our gene panel allows analysis of the prognostically relevant genes in CLL, with two PCRs per patient. ...

Rapid Diagnosis of Lower Respiratory Infection using Nanopore-based Clinical Metagenomics

In the latest edition of Oxford Nanpore's newsletter please take a look at an article: Rapid Diagnosis of Lower Respiratory Infection using Nanopore-based Clinical Metagenomics

Lower respiratory tract infections are the leading cause of death from infectious disease worldwide, causing three million deaths in 2016. A wide range of pathogens cause these infections, making quick diagnosis and prescribing decisions a challenge.

Using the MinION, Charalampous et al. developed a pipeline that was capable of removing up to 99.99% of host nucleic acids from the clinical samples, was 96.6% concordant with culture in terms of pathogen detection, and could accurately detect resistance genes within six hours.

Read the workflow

OBN Awards: 2018 Finalists announced

We are delighted to announce our 2018 OBN Award Finalists.  This is the 10th anniversary of the OBN Awards, the life sciences industry’s most highly regarded awards event.  2018 was another record breaking year, with award entries up over 40% on 2017.  

The pricing and reimbursement related solutions to organisations in the life sciences industry.

It is not enough for companies to gain regulatory approval in order to gain market access. Almost all new pharmaceutical products need to undergo value assessment by reimbursement authorities to gain market access and return of investment. Almost every country now has such an authority in place, including the UK, Germany, France, Italy, Spain and the USA.

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