model is proposed for the phenotypic discovery of diseases that often co-occur in patients (referred to as disease comorbidity), and are expected to be governed by the same genetic mutations12. Our proposed approach is further developed to allow inclusion of domain knowledge in terms of ...
The central dogma describes the way information flows in one direction from DNA to RNA to proteins. Disruptions in the information flow or regulations of the steps may result in gradations of gene expression. DNA mutations may occur during DNA replication resulting in changes to the codons an...
38, but distinguishing the impact of large-scale rearrangements on fitness from other types of mutation in naturally evolved strains remains challenging. The SparLox83R strain can be used to introduce large-scale genomic rearrangements, allowing the investigation of the role of such rearrangements in...
During the study design stage, some sources of batch effects can be introduced, including the choice of high-throughput technology, sample size, and number of batches. Among them, it has been reported that flawed or confounded study design is one of the critical sources of cross-study irreprodu...
A large group of data suggests that repeat expansions can occur during DNA replication (reviewed in Mirkin, 2006). Noncanonical DNA structures formed by expandable repeats stall DNA polymerases in vitro, resulting in misalignment of repetitive DNA strands and expansions (Gacy et al., 1998, Ohshima...
(HTS2) is an emerging technology in the realm of high-throughput drug screening. HTS2effectively incorporates high-throughput sequencing techniques to construct gene expression signatures under various experimental conditions16,17. HTS2is particularly well-suited for large-scale research in the field of...
These are particularly useful for large-scale studies aiming to explore genetic variation across whole populations or for rapid screening of specific mutations. However, they necessitate prior knowledge of the expected allelic forms in the individuals being genotyped. Alternatively, genomic reduction ...
We split the dataset into patient-wise training, validation, and internal test sets stratified by the target label, thus ensuring that every patient can only occur in one of these sets. The external test sets always consisted of different cohorts to better quantify the generalization properties of...
Examples include CEP290, mutations in which can cause either JBS or Leber congenital amaurosis,38 and CLN3, which is associated with Batten disease and nonsyndromic retinal degeneration.39 The novel genotype–phenotype correlations described in this study enhance our knowledge of the molecular ...
Insects use sex pheromones as a reproductive isolating mechanism to attract conspecifics and repel heterospecifics. Despite the profound knowledge of sex pheromones, little is known about the coevolutionary mechanisms and constraints on their production