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All the variants were heterozygous, which meant that I had inherited them from only one parent (I feel pretty sure it was my mother, who loved milkshakes) and not from the other (the one who loved wine).
The variants were heterozygous in three patients and homozygous in one patient.
All variants were heterozygous.
Of 25,217 variants fulfilling this criterion, 24 variants were heterozygous in at least three (out of six) re-sequenced FH1-carriers (accounting for low sequence coverage and e.g., under-calling of heterozygous genotypes) (Additional file 9).
4.10% (600 variants) and 19.91% (2,885 variants) were heterozygous (allele frequency between 0.4 and 0.6) in male parent (HR) and in female parent (LE), respectively, suggesting elevated inbreeding in the male (HR) parent.
All variants were heterozygous and detectable in both metastases (9/9 variants) and the corresponding cell lines H-STS (9/9) and P-STS (9/9) at lower passages (passage 7 for H-STS, and 14 for P-STS; Table 2) whereas the L-STS at passage 9 has already lost the mutant alleles and displayed only reference/wild-type allele information (Table 2) for all nine investigated markers.
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Both variants are heterozygous in eight FH2-carriers and homozygous for the reference allele in all other sequenced Fleckvieh animals.
Tumour DNA from two patients (ID 326.1, 326.2) carrying the unclassified variant were heterozygous; loss of the wild-type allele could thus be excluded (Fig. 1b).
Unfortunately, in this family neither the proband nor the relatives tested for the BRCA1 c.4987-3C>G variant were heterozygous for a polymorphism in the region of the spliced exon.
If a variant was heterozygous, failed the genotype quality filter (GQ < 20), or was not called for a particular genotype (but called for other genotypes), the corresponding bases were replaced with Ns.
This variant was heterozygous in the healthy father.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com