Sentence examples for most penetrant causal from inspiring English sources

Whilst categorizing disease subtypes is of immense importance, it is likely genome-wide studies that rely on the homogeneity of the disease cohort and measure the frequency distribution of tag-SNPs alone [52], [53], [54] are biased towards variation that is common to all subtypes of the disease and consequently may fail to detect the most penetrant, causal alleles specific to each disease subtype.

Previously reported disease-causing mutations were detected, but only five were fully penetrant causal mutations that improved diagnosis.

The most penetrant phenotype involves the sacrum of all mutant mice.

As previously mentioned, the FVB-MetM1248T/L1193V mice had the most penetrant mammary tumorigenic phenotype (Table 2).

The most penetrant phenotype was staining in the posterior diencephalon with 94% (p<10−10, n = 17) and 81% (p<10−10, n = 16) of embryos showing this pattern with the chicken (Figure 3d) and human (Figure 3e) elements, respectively.

One of the most penetrant enhancers of our double mutant background that we found was F58D2.1.

Of all the phenotypes associated with Ccnd1−/− mice, the most penetrant and dramatic is improper development of the retina.

Injection of pooled dsRNAs targeting six remaining genes (the six with the most penetrant effects on gastrulation in ced-5 (n1812 )) into N2 worms resulted in 49% penetrant gastrulation defects in Ea/ Ep cell internalization (Table S2).

The primary aim of this review is to document some of the key approaches and provide an analysis schema to make the analysis process more efficient and reliable in the context of discovering highly penetrant causal mutations/genes.

Fully penetrant (causal) mutations leading to early-onset familial AD were identified within three genes; the amyloid precursor protein gene (APP) and the two presenilin genes (PSEN1 and PSEN2).

The MC1R-R genotype (wt/wt, wt/R, R/R) was collapsed from 3 highly penetrant causal variants, i.e., rs1805007 (rs1805008s1805008 (R160 W), and rs1805009 (D294H), based on a haplotype analysis.