Our advantages
We are a dynamic group at the forefront of experimenting with new sequencing technologies and data analysis and interpretation systems.
We have been working for a long time on choosing the best library preparation protocol, evaluated on the basis of the candidate genes indicated by the client. The experience we have gained thanks to the thousands of analyzes carried out allows us to always identify the best solution on the market.
We accompany you throughout the journey, recommending the right sequencing, the most appropriate enrichment protocol combined with adequate high-quality coverage, which leads us to know everything about the candidate genes.
We perform the alignment and call of variants not only in VCF, but also in gVCF: this allows us not to leave any doubt or uncertainty about the reading and presence of a variant.
A database we own, specific to the Italian population, allows us to be more efficient in identifying rare variants in our population, which are not present in the public databases used on the market.
The sequencing customized for you
There are various equipment and technologies on the market to carry out the sequencing activity: our experts know how to identify the equipment that best suits your needs, so as to ensure the best result in clinical and non-clinical activities.
Our laboratory based in Verona has the most advanced sequencing technologies and, through numerous collaborations with technological centers and international research institutes, has access to all the technologies available on the market.
Our operational flexibility allows us to perform sequencing very quickly and to be able to sequence and report urgent samples for healthcare facilities.
We are well aware of the value of sequencing at the scientific research level and even more so for the clinic, which is why we take nothing for granted: the extraction and preparation activities carried out in our laboratories meet the highest quality standards on the market and they allow us to always identify new procedures and processes, which enrich our skills every day.
Finally, the experience of our technicians and researchers can help you to offer support, advice and training to the sequencer present at your healthcare facility.
There are various equipment and technologies on the market to carry out the sequencing activity: our experts know how to identify the equipment that best suits your needs, so as to ensure the best result in clinical and non-clinical activities.
Our laboratory based in Verona has the most advanced sequencing technologies and, through numerous collaborations with technological centers and international research institutes, has access to all the technologies available on the market.
Our operational flexibility allows us to perform sequencing very quickly and to be able to sequence and report urgent samples for healthcare facilities.
We are well aware of the value of sequencing at the scientific research level and even more so for the clinic, which is why we take nothing for granted: the extraction and preparation activities carried out in our laboratories meet the highest quality standards on the market and they allow us to always identify new procedures and processes, which enrich our skills every day.
Finally, the experience of our technicians and researchers can help you to offer support, advice and training to the sequencer present at your healthcare facility.
The best genotyping for your project
We use all the technologies to prepare the libraries and learn about the capture kits available on the market. The result of this long research and data comparison work has allowed us to develop our own internal pipelane and obtain maximum genotyping in the regions of the genome of greatest interest to the client.
The coverage value we provide is the real one and not the theoretical one, so we do not consider the off target, padded region and duplicate regions (the theoretical coverage can be very different from the real one: the values change from 10 to 50%).
Each kit available on the market has different capture efficiencies for different regions of the genome. We at Personal Genomics use all available kits and know the strengths and weaknesses of each of them.
We are able to modify the length of the libraries to optimize the effective coverage of each sequenced fragment and we have developed internal protocols that allow us to modify the length of the libraries according to the sequencing technology used.
In addition to the real coverage value, we provide the genotyping value of the investigated DNA regions. Having as a quality parameter only the coverage value, in fact, is not informative about the real genotyping of the analyzed region.
If a given region of the genome is mapped with a low sequencing quality (because for example there are duplicate regions) the variants cannot be called even if the coverage value is high.
We at Personal genomics provide both quality parameters: coverage and the ability to “call variants” for each specific region of the genome.
If the client provides us with a list of candidate genes, we are able to choose the maximum genotyping optimization for the genes of interest.
The sequencing data is reported in a gVCF file in which we list the variants found and highlight when a variant is absent because it is actually not present or because, due to the low sequencing quality, it was not possible to call that specific DNA position.
We use all the technologies to prepare the libraries and learn about the capture kits available on the market. The result of this long research and data comparison work has allowed us to develop our own internal pipelane and obtain maximum genotyping in the regions of the genome of greatest interest to the client.
The coverage value we provide is the real one and not the theoretical one, so we do not consider the off target, padded region and duplicate regions (the theoretical coverage can be very different from the real one: the values change from 10 to 50%).
Each kit available on the market has different capture efficiencies for different regions of the genome. We at Personal Genomics use all available kits and know the strengths and weaknesses of each of them.
We are able to modify the length of the libraries to optimize the effective coverage of each sequenced fragment and we have developed internal protocols that allow us to modify the length of the libraries according to the sequencing technology used.
In addition to the real coverage value, we provide the genotyping value of the investigated DNA regions. Having as a quality parameter only the coverage value, in fact, is not informative about the real genotyping of the analyzed region.
If a given region of the genome is mapped with a low sequencing quality (because for example there are duplicate regions) the variants cannot be called even if the coverage value is high.
We at Personal genomics provide both quality parameters: coverage and the ability to “call variants” for each specific region of the genome.
If the client provides us with a list of candidate genes, we are able to choose the maximum genotyping optimization for the genes of interest.
The sequencing data is reported in a gVCF file in which we list the variants found and highlight when a variant is absent because it is actually not present or because, due to the low sequencing quality, it was not possible to call that specific DNA position.
Panels customized for you
Our experience in customizing panels has allowed us to develop highly performing ones for the most frequent clinical and diagnostic situations.
Some examples of our panels:
• Predictive tests of female tumors: BRCA 1-BRCA2, BRCA of Second degree, Extended BRCA, Ovarian cancer, Endometrial cancer.
• NIPT
• Sexually transmitted diseases panels
• Thrombophilic / poliabortivity panels
• Man / woman carrier panels
• Premature ovarian exhaustion panels
In the execution of the panels, we analyze the genes with different technologies and report all the mutations, not just the known ones. Our analysis software allows us to report the analysis of variants, but also the clinical trials of reference for the specific pathology linked to the gene and the variant.
Our scientific research team is at your disposal for the identification and study of new panels dedicated to the development of particular research projects or simply to customized diagnostic activities.
Our flexibility, combined with the scientific experience deriving from having worked with the main Italian and international hospitals, allows us to provide a solution to your every need.
The daily contact with geneticists and professionals of different medical specialties, such as gynecologists, oncologists, senologists and rare disease experts, allows us to customize the required panels.
Our experience in customizing panels has allowed us to develop highly performing ones for the most frequent clinical and diagnostic situations.
Some examples of our panels:
• Predictive tests of female tumors: BRCA 1-BRCA2, BRCA of Second degree, Extended BRCA, Ovarian cancer, Endometrial cancer.
• NIPT
• Sexually transmitted diseases panels
• Thrombophilic / poliabortivity panels
• Man / woman carrier panels
• Premature ovarian exhaustion panels
In the execution of the panels, we analyze the genes with different technologies and report all the mutations, not just the known ones. Our analysis software allows us to report the analysis of variants, but also the clinical trials of reference for the specific pathology linked to the gene and the variant.
Our scientific research team is at your disposal for the identification and study of new panels dedicated to the development of particular research projects or simply to customized diagnostic activities.
Our flexibility, combined with the scientific experience deriving from having worked with the main Italian and international hospitals, allows us to provide a solution to your every need.
The daily contact with geneticists and professionals of different medical specialties, such as gynecologists, oncologists, senologists and rare disease experts, allows us to customize the required panels.