For example, take an individual who has one allele for blonde hair and one allele for brown hair. Based on this information, we know that their genotype includes blonde hair and brown hair. If we observe that the individual has blonde hair – in other words, blonde hair is the expressed ...
By using bootstraps that estimate inferential variance, the sleuth method and software provide fast and highly accurate differential gene expression analysis in an interactive Shiny app. Harold Pimentel , Nicolas L Bray & Lior Pachter Brief Communication | 22 May 2017 Allele-specific expression rev...
Two of these alleles, however, are extinct and unavailable for further analysis. In this article we report a new spontaneous dr allele and describe the Lmx1a mutations in this and six additional dr alleles. Strikingly, deletion null, missense, and frameshift mutations in these alleles all cause...
(RNA-seq). eQTL analysis involves identifying for each gene, those genetic variants where genetic variation significantly associates with gene expression variation, as determined using linear regression or non-parametric models to correlate allele counts and expression levels. An eQTL study is analogous ...
22or other custom software. It is recommended to use a curated germline gene database that contains a comprehensive collection of functional full-length genes as annotated by IMGT. Generally, we exclude all but the *01 allele for those genes with multiple allelic forms. The analysis and ...
Gene-by-gene approaches are becoming increasingly popular in bacterial genomic epidemiology and outbreak detection. However, there is a lack of open-source scalable software for schema definition and allele calling for these methodologies. The chewBBACA suite was designed to assist users in the creati...
(Fig.3f). The variant has been statistically fine-mapped as likely to cause changes in monocyte and lymphocyte blood cell counts24. According to GTEx, the minor allele T decreases gene expression ofNLRC5in whole blood relative to the major allele C. Enformer correctly predicts reducedNLRC5...
In eukaryotes, gene conversion has been classified into two types based on the conversion targets; one involves allele conversion and the other involves repeated genes. Conversion between alleles occurs at the same loci on sister-chromatids or between homologous chromosomes. Conversion events between re...
a locatable region of genomic sequence, corresponding to a unit of inheritance, which is associated with regulatory regions, transcribed regions, and or other functional sequence regions " . In common usage, the term gene often refers to what is known more accurately as an allele. The notion ...
(i.e., the presence of a systematic difference in allele frequencies in a seemingly homogenous population, possibly due to different ancestries from which the study participants are derived), and (iv) phenotypic and locus heterogeneity. Another limitation of the candidate gene approach is that it...