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Understanding Your Report

There is a lot of technical language that you may not be familiar with contained in your genomics report. This page provides definitions and explanations so that you can better understand what your results mean when reading your test report.

Report

There is a lot of technical language that you may not be familiar with contained in your genomics report. This page provides definitions and explanations so that you can better understand what your results mean when reading your test report.

CADD

Combined Annotation Dependent Depletion. Used to score the effect or the deleteriousness of mutations including single nucleotide variants (SNVs) and insertions or deletions (InDels). This CADD score allows us to sort the mutations you may have into categories of risk level. Your report will indicate, which may be of concern and which are not.

CNV

Copy Number Variant. CNVs determine how many copies of a specific gene you have, this can tell us whether you have too many copies of the same harmful variant of a gene or many of the good variant of a gene. This also factors in the number of InDels that have occurred in this segment of DNA.

InDels

Insertions or deletions. This refers to two types of mutation that can occur within your DNA. Insertions within a gene can cause a number of effects, but it is the same as putting an additional letter into a word, ie. if you have the word BIOLOGY and have an insertion it might now look like BITOLOGY, which changes its meaning. A deletion within a gene can also cause a number of effects, but it is the same as removing a letter from an existing gene/word, ie. BIOLOGY could become BIOLOY. In the case of either insertions or deletions, the effects on the gene can be deleterious (bad) such as causing a loss of function of a good gene, advantageous (good) such as improving the stability of a good gene, or have no perceived effect (no change).

LoF

Loss of Function. This refers to a case in which a gene no longer produces a protein due to a mutation, for example if you think of a gene as a word and someone replaces one of the letters with another that makes the word no longer a word such as if we changed the word ‘GIFT’ to ‘GIZT’, we could
no longer use GIZT to make a sentence.

MSA

Multiple Sequence Alignment. We use MSA to compare your genetic variants with reference databases to understand how your DNA is different from the existing genomic information in the public domain.

MSA-SIFT

Sorting Intolerant from Tolerant tool within MSA package. This program helps determine what alignments are meaningful and which are not. For example, if you have a region of DNA that closely matches another region of DNA that does not encode for the same gene it will be more different than other alignments, so we sort alignments into groups that match very closely and remove those that may cause background noise that could confound your results.

MSA-PolyPhen

Polymorphism Phenotyping tool within MSA package – Both SIFT and PolyPhen use sequence homology of related proteins to predict whether an amino acid substitution (AAS) is likely to be deleterious to protein function based on the degree of conservation of the affected base throughout evolution. MSA-PolyPhen is used to predict whether or not a mutation in your genes could actually cause a change in the typical protein you would be producing.

SNP

Single Nucleotide Polymorphism – a single nucleotide change that has been identified as relatively prevalent in the population. A SNP is one of the most common changes in your DNA that happens. This is when your gene or word has one nucleotide or letter changed, ie. if your DNA is CAT a SNP could change it to CAG. To be a SNP this variant must be present in at least 1% of the population.

SNV

Single nucleotide variant – a single nucleotide change that may or may not be present in the population. All SNPs are SNVs, but not all SNVs are SNPs. SNVs are the same as SNPs, but they do not need to be common in the population.

Intron

Non protein-coding region in genome – a segment of a DNA or RNA molecule which does not code for proteins and interrupts the sequence of genes. Introns exist within genes, but are commonly spliced (removed) when making proteins. These however can still code for molecules that regulate the expression of your genes to make more or less proteins.

Exon

Protein-coding region in genome – a segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence. One gene can have multiple exons and multiple introns and through a process known as alternative splicing can make multiple proteins.

Missense

A DNA change in DNA sequence that results in different amino acids being encoded at a particular position in the resulting protein. Due to redundancy in the creation of amino acids, not all DNA changes mean there will be a change in the amino acid/protein sequence. A missense mutation means there IS a change in the amino acid sequence after the DNA has changed, for example, if your DNA was CATCAT and it was changed at one position, say it changed to TATCAT this would make TyrHis instead of HisHis.

Synonymous

Change in the DNA sequence that codes for amino acids in a protein sequence but does not change the encoded amino acid. This is similar to the missense mutation in scope, but different effect. Using the same example as the missense mutation of the DNA = CATCAT and is changed to something else, it could be changed to CACCAT and it will actually still make HisHis with either DNA sequence, unlike the missense change where the DNA changed to TATCAT and the amino acids became TyrHis.

Dominant Allele

A dominant variant / allele is one that overrides the effect of the second allele. It is enough for one of the alleles to be altered in order to produce the effect. You have two copies of DNA – one from your mom and one from your dad. When you have a dominant allele this means the copy from one parent will always show up as your phenotype (what you can physically see) such as eye color. For example, if your mom has two alleles for brown eyes and your dad has two alleles for green eyes you will get one allele of brown and one allele of green, because brown is a dominant allele you will have brown eyes.

Recessive Allele

Both alleles need to present the alteration in order to produce the effect. In the above example provided in the ‘Dominant Allele’, the green eyes trait with your dad shows that only when you have two alleles of the same allele will it show physically, whereas you have one green eye allele and you have brown eyes.

Autosomal

Gene is positioned on one of the numbered chromosomes, i.e., non-sex chromosomes. Humans have 23 pairs of chromosomes, with one of those pairs being the sex chromosomes (X and Y versions). Autosomal genes exist on chromosomes 1 – 22 and not on the sex chromosomes X or Y.

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