Recently, there has been considerable discussion regarding how massively parallel sequencing (MPS) can optimally be applied in the context of clinical genetics services. Whole-genome MPS remains prohibitive in terms of cost, throughput, data handling and bioinformatic analysis complexity, as well as challenging clinical interpretation and raising many issues around the ethics of reporting results. Targeted MPS can address these issues by efficiently restricting clinical testing to sets of genes or genomic regions with known diagnostic value, while providing marked time- and cost-related advantages over traditional Sanger sequencing-based strategies. We previously developed and reported Hi-Plex, a streamlined highly-multiplexed PCR approach ...
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains ...
INTRODUCTION: Recent discoveries in cancer research have revealed a plethora of clinically actionabl...
We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencin...
The fulltext of this publication will be made publicly available after relevant embargo periods have...
Current methods for targeted massively parallel sequencing (MPS) have several drawbacks, including l...
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains ...
Tumor specimens are often preserved as formalin-fixed paraffin-embedded (FFPE) tissue blocks, themos...
Background: Whole-exome sequencing (WES) has recently emerged as an appealing approach to systematic...
In this thesis I describe the steps taken to harness the power of massively parallel sequencing in n...
Massively parallel sequencing (MPS) is rapidly evolving and is starting to be utilized by the clinic...
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains ...
Amplicon sequencing has been the method of choice in many high-throughput DNA se-quencing (HTS) appl...
Massively parallel sequencing has reduced the cost and increased the throughput of genomic sequencin...
A variety of techniques that specifically target human gene sequences for differential capture from ...
Background—Aim Massively parallel sequencing (MPS) holds promise for expanding cancer translational ...
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains ...
INTRODUCTION: Recent discoveries in cancer research have revealed a plethora of clinically actionabl...
We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencin...
The fulltext of this publication will be made publicly available after relevant embargo periods have...
Current methods for targeted massively parallel sequencing (MPS) have several drawbacks, including l...
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains ...
Tumor specimens are often preserved as formalin-fixed paraffin-embedded (FFPE) tissue blocks, themos...
Background: Whole-exome sequencing (WES) has recently emerged as an appealing approach to systematic...
In this thesis I describe the steps taken to harness the power of massively parallel sequencing in n...
Massively parallel sequencing (MPS) is rapidly evolving and is starting to be utilized by the clinic...
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains ...
Amplicon sequencing has been the method of choice in many high-throughput DNA se-quencing (HTS) appl...
Massively parallel sequencing has reduced the cost and increased the throughput of genomic sequencin...
A variety of techniques that specifically target human gene sequences for differential capture from ...
Background—Aim Massively parallel sequencing (MPS) holds promise for expanding cancer translational ...
Despite improvements in terms of sequence quality and price per basepair, Sanger sequencing remains ...
INTRODUCTION: Recent discoveries in cancer research have revealed a plethora of clinically actionabl...
We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencin...