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Family-based approaches may be useful in the search for the hidden heritability since low-frequency variants accumulate in families with multiple affected individuals; moreover, low-frequency variants are not affected by population stratification and they also include parent-of-origin effects.
Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood.
The VM family dataset was used only for testing the models and consisted of 226 families with multiple affected individuals and their unaffected relatives.
As technologies advance, identification of linked regions followed by targeted capture and deep resequencing of these regions with the aim of detecting locus-specific recessive mutations in multiple affected individuals may further enhance the power of consanguinity mapping.
However, the status of CHMP2B mutations as a contributor to ALS has remained uncertain, due to the lack of described pedigrees where mutations segregate with disease in multiple affected individuals.
First, we constructed these models in 4/5 of the Vanderbilt-Miami (VM) case-control study population and then tested the models on the remaining 1/5 of this dataset and another VM dataset of families containing multiple affected individuals.
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Since the 'B' families were identified through multiple-affected individuals, we maximised the likelihood of all phenotypes and genotypes in the family conditional on all the phenotypic information for the family.
Several families with multiple generations of affected individuals have recently been identified, which suggests there may be an underlying genetic propensity for cholesteatoma [ 48, 49].
The main methodological strengths of this study include: (1) the large sample size; (2) the use of improved statistical methodology over some previous studies; (3) heritability analyses in large multigenerational families with multiple OCD-affected individuals, thus improving the precision of heritability estimates, and (4) generalizability of findings.
End stage renal failure is a devastating condition that involves multiple organ systems in affected individuals.
End-stage renal disease (ESRD) is a devastating condition, which involves multiple organ systems in affected individuals and requires renal replacement therapy.
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multiple affected fetuses
multiple affected sibs
multiple affected exons
multiple affected children
multiple affected relatives
multiple affected generations
multiple affected tissues
multiple affected siblings
multiple affected levels
multiple healthy individuals
multiple affected locations
multiple affected members
multiple affected joints
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