Editorial: LAMP Lights the Way-A Pragmatic Case for NUDT15 Screening Across Diverse Populations-Authors' Reply

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

Biases can arise at various stages of research, from study design and data collection to analysis and interpretation. Recognizing and addressing these biases is essential to ensure the validity and reliability of epidemiological findings.Broadly speaking, biases in epidemiology fall into three main categories: selection bias, information bias, and confounding. A more detailed description of possible biases is:  

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.

Confounding in statistical epidemiology represents a pivotal challenge, referring to the distortion in the perceived relationship between an exposure and an outcome due to the presence of a third variable, known as a confounder. This variable is associated with both the exposure and the outcome but is not a direct link in their causal chain. Its presence can lead to erroneous interpretations of the exposure's effect, either exaggerating or underestimating the true association. This...

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.