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For instance, heterozygosity for ribosomal gene mutations (Minutes) slows growth dramatically in vivo, yet does not reduce cell size, and sometimes even increases it (our unpublished observations).
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It will almost surely be the case that when applied to real sequence data (possibly containing errors not included in our simulated reads) and real recombinant populations (containing, for instance, residual heterozygosity not simulated here), the genome produced will not reach 96% accuracy.
In some instances, p53 heterozygosity was able to rescue the lethal phenotype caused by deletion of Mdm2 or Mdm4, again demonstrating a dosage dependent phenotype.
Among the 240 markers with deviation from Mendelian ratios we observed instances of complete absence or very low occurence of one parental allele, and instances of excess heterozygosity.
Such mismappings might reflect instances of small-indel heterozygosity in the underlying genomes.
There were 357 instances of loss of heterozygosity (LOH) and 341 somatic indels between control and glioma DNAs.
Requiring only sub-micrograms of sample DNA, the power of AluScan as a discovery tool for genetic variations was demonstrated by the identification of 357 instances of loss of heterozygosity, 341 somatic indels, 274 somatic SNVs, and seven potential somatic SNV hotspots between control and glioma DNA.
For instance, a sudden decrease of heterozygosity around position 15000 could be related to the presence of a putative functional element, such as gene regulatory region or functional noncoding RNA (fig. 4 A ).
For instance, the genome-wide estimation of heterozygosity across all SNPs is negatively correlated with the level of individual inbreeding (Keller and Waller 2002), and SNP variation might therefore provide a more accurate estimate of inbreeding.
Other quality metrics include the frequency of missing data or apparent heterozygosity; aside from two instances of apparent heterozygosity at locus 1_1166 in two seemingly identical OWB doubled haploid lines #22 and #70, all individuals in all three mapping populations had homozygous genotype calls for all loci and no missing data.
For example, unfamiliarity with gene nomenclature, symbols denoting alleles (for instance, *1), and genetic terminology (such as carrier, heterozygosity) will likely exacerbate patient confusion.
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