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Genomics and Medicine
Published in Danielle Laraque-Arena, Lauren J. Germain, Virginia Young, Rivers Laraque-Ho, Leadership at the Intersection of Gender and Race in Healthcare and Science, 2022
Another interesting perspective gleaned from the ongoing discovery of the molecular basis of many conditions is that it allows us to appreciate that individuals can have deficits due to genetic changes, but they can also have exceptional talents due to genetic variation. As an example, individuals with a condition called Williams syndrome (Wilson & Carter, 2021), who experience mild-to-moderate intellectual disability as well as cardiac and vascular structural anomalies, are also noted to have increased musicality and aptitude for music (WS, 2021). Having an exceptional ability undercuts the notion that all conditions are “bad” and “abnormal” and suggests that we can all gain an appreciation of difference based on genetic variation, rather than a strict hierarchical ranking of outcomes due to genetic variation. As a result, individuals with Williams syndrome have the additional opportunity to undertake music therapy as part of their ongoing treatment plans. Thus, genetic variation can actually open up possibilities and introduce opportunities for improving health. Strengthening an appreciation of variation, diversity, and difference among both patients and providers will serve as a positive result of genomic medicine that can have societal benefits as well as medical benefits (Flanagin et al., 2021).
Carrier Screening for Single-Gene Disorders
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Julio Martin, Arantxa Hervas, Ana Bover, Laura Santa, Ana Cervero
The role of genetic variation in human diseases is well known; some DNA changes or genotypes across a person's genome explain single-gene diseases as well as contributing to developing complex traits. The application of DNA sequencing and genetic studies to the practice of medicine has ramped up progress in variant detection and interpretation; nevertheless, significant work is still needed to prevent the birth of affected children and to improve the lives of affected people. The use of genetic testing, such as expanded carrier screening, has helped to reduce the frequency and impact of significant Mendelian diseases. These screening tests allow the identification of individuals and couples at risk of conceiving children who will be affected by diseases traceable to single-gene mutations.
Genetics of Human Obesities: Introductory Notes
Published in Claude Bouchard, The Genetics of Obesity, 2020
Two strategies have been traditionally used by geneticists to study the role of genes in continuously distributed phenotypes in humans. As shown in Figure 4, they are referred to as the unmeasured genotype and the measured genotype approaches.45,46 The unmeasured genotype approach attempts to estimate the contribution of genetic variation to the phenotypic variance and to find quantitative evidence for single genes with detectable (major) effects on the phenotype. As inference about the contribution of genes is made from the phenotype, this approach is also referred to as the top-down strategy. Here one uses various sampling designs (twins, nuclear families, families with adoptees, extended pedigrees, etc.) in combination with statistical tools such as path analysis, variance component estimation, and complex segregation analysis. On the other hand, the measured genotype approach is based on direct measurement of genetic variation at the protein or DNA levels in an effort to assess the impact of allelic variation on the phenotypic variation. Since inference about the role of genes is made from DNA to the phenotype, this approach is at times referred to as the bottom-up strategy.46 Direct measures of genetic variation may be obtained by studying gene products or, better still, DNA sequences. Advances in recombinant DNA technology over the last two decades have made possible the measure of genetic variation at the DNA level and have provided the impetus necessary for the extensive use of the measured genotype approach in human genetic studies.
Genomic diversity and differentiation of Alu insertion polymorphisms in a native British and four South Asian migrant populations
Published in Annals of Human Biology, 2023
Rebekah Beaumont, Liz Akam, Puneetpal Singh, Jasvinder Singh Bhatti, Sarabjit Mastana
Genomic DNA samples from five different populations were collected to analyse the level of genetic variation. A native British population was analysed besides four South Asian populations; Indian Punjabi (Sikhs), Indian Gujarati, Bangladeshi, and Pakistani, occupying the East Midlands. According to the 2011 census, roughly 12% of the region’s non-white population were Indian, followed by Pakistani (4.4%) and Bangladeshi (3%) (England and Wales 2011 Census). Blood samples were collected from volunteered donations at various sites and local events in parallel with the genetic studies occurring in the East Midlands region at the time. The participants were between the ages of 18 and 60 and confirmed to be unrelated within three generations. Ethnic backgrounds were defined using a questionnaire concentrating on each of the participant’s four grandparents. The participants completed written consent before donating a blood sample. Institutional ethics and the NHS blood donation service approved the collection and analysis of the anonymous samples for genetic analyses. The final East Midlands Alu dataset contained samples from five different ethnic backgrounds; British White (n = 113), Indian Punjabi (n = 133), Indian Gujarati (n = 92), Bangladeshi (n = 100), and Pakistani (n = 105). We hypothesised that there would be a significant genetic variation at different Alu polymorphisms amongst the East Midlands populations based on different population and geographical origins, marriage, and migration patterns.
Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma
Published in Ophthalmic Genetics, 2022
Kenji Nakamichi, Andrew Stacey, Debarshi Mustafi
Whereas the majority of RB1 mutations can be detected by clinical exome sequencing using targeted panels, genome sequencing (GS) is essential to uncover structural variants in coding portions of RB1 as well as variants in non-coding portions of the RB1 gene (15). Next generation sequencing (NGS) can detect relevant mutations (16) and can help correlate with potentially aggressive histopathologic features (17). However, there are potential disease-causing variants in RB1 that can be missed with more commonly used short-read genome sequencing approaches. Furthermore, short-read sequencing methods usually only span a single variant and thus cannot provide genetic phase information. Phasing genetic variation is essential to understand on which chromosome a variant lies, in order to elucidate potential inheritance patterns. Targeted enrichment for the RB1 gene locus from genomic DNA with long-read sequencing technology would avoid wasting sequencing bandwidth on uninformative reads and allow much deeper coverage from the same sequencing effort. Furthermore, since native-base modifications are preserved with long-read sequencing, DNA methylation signals can be discerned. Taken together, targeted long-read sequencing offers an approach to resolve the full complexity of the genomic rearrangements in RB1 and provide genetic phase information more rapidly.
Understanding the genetic basis of immune responses to fungal infection
Published in Expert Review of Anti-infective Therapy, 2022
Samuel M. Gonçalves, Cristina Cunha, Agostinho Carvalho
Genome-wide data are typically considered to provide a ‘static’ overview of genetic variation. However, physiological responses to fungal infection require the coordinated regulation of gene expression and function [91]. These molecular events vary markedly between individuals and influence phenotypes such as protein levels, cell morphology and function, and immunity to infection. Significant efforts have been made in mapping functional traits to the underlying genetic sequence as a quantitative trait and identifying quantitative trait loci (QTLs) [92]. QTL mapping represents therefore a powerful strategy to enable critical insights into the genomic landscape and generate functional maps useful for the interpretation of genetic variants typically emerging from GWAS datasets. This is particularly useful for non-Mendelian immune and infectious disease phenotypes where the interaction between polygenic variants and environmental or clinical factors is required for the manifestation of the disease (as is the case of fungal infection).