Peter N. Robinson Nature Reviews Genetics16,702–715 (2015)Cite this article 12kAccesses 79Citations 27Altmetric Metrics Key Points Genotype–phenotype databases contain data on genetic variants and associated phenotypes. In medical contexts, such databases are focused on disease-causing mutations and ...
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In addition to providing standard CR, the system is able to decompose and align conjunctive terms (e.g., “short and broad fingers” aligns to “short finger” [HP: 0009381] and “broad finger” [HP: 0001500]), as well as recognize and process non-canonical phenotypes, such as “...
Natural variants furthermore vary in their effects on human phenotypes from neutral to disease-associated. As mutation data are highly dispersed over numerous sources, a single resource for variants would aid investigators of GPCRs. The GPCR NaVa database therefore integrates data on natural variants...
The data also show that structural variation impact many genes that have been linked to human disease phenotypes, and that interpretation of these data is complex [38]. Current genotyping services offered in the personal genomics field do not always include screening for SVs, and we find that ...
The co-occurrence of these two phenotypes was highly dependent on the cancer type. In gastrointestinal cancers such as stomach adenocarcinoma, duodenum adenocarcinoma, and small intestine adenocarcinoma, MSI-High and high TMB almost always co-occur, while in melanoma, squamous cell carcinoma, and ...
Owing to the large number of ADAR substrates and the high conservation of ADARs, mutations in ADAR genes would be expected to cause various abnormal phenotypes. Proper function of ADAR1, the most prevalent ADAR enzyme, is essential for proper development in mammals. In mice, a homozygous null ...
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These changes compromise stable cell phenotypes across cell populations over the course of an experiment, leading to confusing experimental interpretations55. Fig. 1: Renewed concept of cell types that takes into account the cell state continuum and diversity, as well as the state stability, of a ...
the resistant and sensitive lines had fixed allelic frequencies at loci associated with EMB resistance, the resulting F1 hybrids would all be heterozygous at those loci, thus reducing to zero the genotypic variability of that population together with the power to associate genotypes to phenotypes. ...