Frequently Asked Questions

How can I download my imputed files?

You can access your imputed files by going to the “Products” section in your account.

How can I download my phased files?

You can find your phased files in the “Products” section of your account.

Can I upload VCF files to your site?

We are currently working on the ability to accept VCF files. In the meantime, you can use our “VCF to RAW” service to convert your VCF file to a standard RAW file, which can be found in our store.

Can I upload BAM/CRAM files from WGS testing to your site?

Unfortunately, BAM and CRAM files are too large to be uploaded directly to our site as they contain the entire genome. However, you can use our “VCF to RAW” service to convert your VCF file to a standard RAW DNA file, which can be found in our store.

What is a VCF file?

A VCF file is a type of computer file that stores information about variations in a person’s DNA. DNA is the code that tells our bodies how to grow and function, and it is made up of long chains of molecules called genes. Sometimes, there are small changes or mistakes in a person’s DNA, called variations. These variations can affect how a person’s body works and can cause different traits, like eye color or height.

A VCF file is a way to store and share information about these variations. It only includes the variations that are found in a specific person’s DNA, which is why it is sometimes referred to as a “personalized” file. This is different from a regular RAW file, which includes all of the variations that have been found in a larger group of people.

So, when a person gets a report based on a VCF file, it means that the report is only taking into account the variations that are found in that person’s DNA. It does not include all of the possible variations that might be found in a regular RAW file. This can sometimes make the report not accurate as expected, because it does not have all of the necessary information.

Is it possible to apply the process of phasing to a file that has already undergone phasing?

If you have a DNA file that has already been phased, it means that the file contains information about which alleles (versions of a gene) an individual inherited from each parent. In this case, it would not be necessary to perform phasing on the file again, as the information is already present.

However, it is possible to perform additional analyses on a phased DNA file to further investigate the genetic information it contains. For example, you could use software tools to identify variations or mutations within the sequence or to compare the individual’s genome to a reference genome to identify differences. You could also use the phased DNA file to predict the likelihood that an individual will pass on particular traits to their offspring.

It is important to note that the accuracy of the phasing information in a DNA file depends on the quality and coverage of the data used to generate the file, as well as the phasing method used. If you have concerns about the accuracy of the phasing information in your DNA file, you may want to consider re-phasing the data using a different method or with additional data.

What does DNA phasing do to heterozygous and homozygous SNPs?

DNA phasing refers to the process of determining which alleles of a particular genetic variant, or single nucleotide polymorphism (SNP), are inherited from which parent. In the case of heterozygous SNPs, the individual carries two different alleles, one inherited from each parent. In this case, DNA phasing can help to determine which allele was inherited from which parent.

In the case of homozygous SNPs, the individual carries two copies of the same allele. In this case, DNA phasing is not necessary, as it is already known that both copies of the allele were inherited from the same parent.

DNA phasing can be useful in a variety of contexts, including genealogy, medical research, and forensic analysis. For example, DNA phasing can help to identify genetic risk factors for certain diseases, or to determine relationships between individuals in a family tree. It can also be used to help identify the source of DNA evidence in a criminal investigation.

Is it possible to use DNA analysis to reconstruct approximately half of an individual’s DNA from each parent by identifying specific inherited genetic variants or single nucleotide polymorphisms?

It is possible to use DNA analysis to reconstruct approximately half of an individual’s DNA from each parent. This is because an individual inherits approximately half of their DNA from each parent. DNA analysis can be used to identify specific genetic variants, or single nucleotide polymorphisms (SNPs), that are inherited from each parent, and to determine the specific combination of alleles inherited from each parent. This can be useful for a variety of purposes, including genealogy, medical research, and forensic analysis

Can I merge RAW files from different people to get a superkit?

No, you cannot merge RAW files from different people. The merging process must be done with samples from the same person only.