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The third major locus is the oncogene BCL11A on chromosome 2[5], [6].
The segregation of a possible major locus is allowed for by letting one or more parameters depend on an unobserved (latent) qualitative factor u = AA, AB or BB.
They concluded that at least one major gene (major locus) is involved at stuttering onset and that the corresponding inheritance pattern conforms to Mendelian transmission.
In fact, we found cases in which a mutation at the major locus is ultimately lost but nevertheless helps reduce the time needed to evolve positive growth, compared with a population whose adaptation relies strictly on background genetic variation (results not shown).
The null model is Mendelian transmission, and this model should be a significant improvement for the likelihood over the no-major locus model if we are to draw the conclusion that a major locus is segregating in this population of dogs.
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A single major locus was fitted to the pedigree under both genotypic and recessive models with incomplete penetrance.
Specifically, fitting these models are intended to reduce the probability of a false detection of a major locus [ 17]; models in which the assumption of Mendelian transmission of the alleles of the putative major locus are relaxed.
In fact, the presence of homologs to each L. major locus was confirmed by manually assembling these loci in L. braziliensis by tiling reads together, using the last 100 bp of each read to locate the next.
The major locus was found to overlap directly with the IT93K-503-1 x CB46 Hbs-1 locus on the cowpea consensus genetic map, spanning from 34.66 cM to 56.58 cM on linkage group 5 (Additional file 2 and Additional file 3).
In the setting of a GWAS of longitudinal repeated measures of HbA1c in subjects from the DCCT (Paterson et al. 2010), a major locus was identified in the CONventional treatment group (nCON = 667) near SORCS1 (10q25.1; rs1358030; p = 4.66 × 10−9) via regression analysis of the average log(HbA1c) value on SNPs with additive genotype coding (Table 2).
Through the generation and study of interval congenic lines, precise mapping, and screening of candidate genes, identification of the specific genes and mechanisms associated with some of the major loci is currently being pursued.
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