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Black and white rectangles show that a person inherited the same sequence variant from both parents.
There are several explanations for this observation, including occurrence of a de novo pathogenic sequence variant or extreme phenotypic variability.
One heterozygous sequence variant (g.4762C>A) was found only in one control, which may have no functional significance.
A third patient had a rare sequence variant, 11984T>C.
Annual rainfall variation drives the balancing of sequence variant frequencies, probably by affecting parental condition.
Table 3 shows frequencies of functional residues having a sequence variant at the position.
This sequence variant was identified in women with benign breast disease as well as individuals within the control cohort.
Herein, this sequence variant was significantly associated with cholelithiasis in the total male and in the total normal weight subgroups.
Thus, we concluded that the causal mutation was likely a sequence variant that affected the protein code or translation.
A sample was considered to have a single haplotype when only one sequence variant was found at each locus.
Recently Marchbanks et al. [56] identified a heteroplasmic mtDNA sequence variant associated with oxidative stress in SZ.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com