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The false negative rate reduced to 7.5% (5/67) and 3.0% (2/67) when considering variant loci with at least 10× and 30× coverage, respectively.
In reality, the process of haplotype inference is of course more complicated than presented here – our simplified argument is designed to merely demonstrate in a quantitative way that by observing the co-occurrence of variant sites, more power can be achieved when calling low frequency haplotypes (and hence SNVs) than by considering variant sites independently.
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This allows stringent filtering of sequencing chemistry-induced artefacts by only considering variants that appear in both reads of pairs.
Considering variants jointly models the biological reality that a number of different variants may separately impact the functioning of a gene.
Other alterations were unintentional, so be sure to consider variant spellings as you take your research further back.
Notwithstanding, AA homozygous samples for rs3761548 and rs2232365 of FOXP3 polymorphisms, considered variant and ancestral genotypes, respectively, presented larger tumor size (>8 cm).
The Working Group considered variant allele frequencies in different populations and ethnicities, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations.
This study examines the environmental consequences and economic impacts of water resource shortages under variant economic policies; however, this requires complex models that jointly consider variant agents and sectors within a systems perspective.
Using the repeat rule, exon 1 is made distinct, while exon 5 is considered variant.
Benign monomelic amyotrophy had been considered variant of spinal muscular atrophy with focal emphasis and a benign course.
Salmonella typhi causes typhoid fever; paratyphoid fever is caused by S. paratyphi, S. schottmuelleri, and S. hirschfeldii, which are considered variants of S. enteritidis.
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