From Sanger Sequencing to Genome Databases and Beyond

Straiton, Jenny; Free, Tristan; Sawyer, Abigail; Martin, Joseph P.

doi:10.2144/btn-2019-0011

Cited by 23 publications

(11 citation statements)

References 9 publications

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“…Already, the recent completion of the UK‐based 100,000 Genomes Project in December 2018 heralds another milestone driving WGS into the clinical sphere. The project is pioneering an evolution of the genomics workforce and associated bioinformatics infrastructure within the UK National Health Service, and is poised to revolutionize our approach to genetic diseases 88,89 …”

Section: Discussionmentioning

confidence: 99%

“…The project is pioneering an evolution of the genomics workforce and associated bioinformatics infrastructure within the UK National Health Service, and is poised to revolutionize our approach to genetic diseases. 88,89 In conclusion, these developing techniques can all be used synergistically to facilitate our transition from simple genome sequencing to functional genomic exploration, to enhance our clinical diagnostic capabilities and to accelerate our progress towards personalized genomics. 68,90…”

Section: (A) (B)mentioning

confidence: 99%

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A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*

et al. 2021

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Summary Background Discovering the genetic basis of inherited skin diseases is fundamental to improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic linkage and candidate gene approaches led to the molecular characterization of several dozen genodermatoses, but over the past decade the advent of next‐generation sequencing (NGS) technologies has accelerated diagnostic discovery and precision. Objectives This review examines the application of NGS technologies from 2009 to 2019 that have (i) led to the initial discovery of gene mutations in known or new genodermatoses and (ii) identified involvement of more than one contributing pathogenic gene in individuals with complex Mendelian skin disorder phenotypes. Methods A comprehensive review of the PubMed database and dermatology conference abstracts was undertaken between January 2009 and December 2019. The results were collated and cross‐referenced with OMIM. Results We identified 166 new disease–gene associations in inherited skin diseases discovered by NGS. Of these, 131 were previously recognized, while 35 were brand new disorders. Eighty‐five were autosomal dominant (with 43 of 85 mutations occurring de novo), 78 were autosomal recessive and three were X‐linked. We also identified 63 cases harbouring multiple pathogenic mutations, either involving two coexisting genodermatoses (n = 13) or an inherited skin disorder in conjunction with other organ system phenotypes (n = 50). Conclusions NGS technologies have accelerated disease–gene discoveries in dermatology over the last decade. Moreover, the era of NGS has enabled clinicians to split complex Mendelian phenotypes into separate diseases. These genetic data improve diagnostic precision and make feasible accurate prenatal testing and better‐targeted translational research.

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Section: Discussionmentioning

confidence: 99%

Section: (A) (B)mentioning

confidence: 99%

A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*

et al. 2021

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“…Regarding the perspectives in generating new data, several recent experimental techniques raise hopes of significantly enhancing the available data on mutational changes. In particular, deep mutational scanning [76] that couples next‐generation sequencing [77,78] with high‐throughput assays, e. g. based on fluorescence‐activated cell sorting [79,80] . This approach links genotype to phenotype by synthesizing a large library of mutant sequences, selecting for expressed phenotypes, and sequencing the library before and after the selection to quantify the fitness of each mutant.…”

Section: Perspectivesmentioning

confidence: 99%

Predicting protein stability and solubility changes upon mutations: data perspective

Mazurenko

2020

ChemCatChem

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“…HTS technologies have tremendously impacted several fields of biological research and have opened the door to new approaches in medicine, such as in personalized medicine. [42][43][44] The sequencing market is nowadays dominated by the Illumina platform. However, several other companies offer sequencing platforms that use different technologies (Table 2), which present different advantages and disadvantages.…”

Section: High Throughput Sequencing Of Mrna Display Selectionsmentioning

confidence: 99%

High throughput sequencing of in vitro selections of mRNA-displayed peptides: data analysis and applications

Blanco

Verbanic

Seelig

et al. 2020

Phys. Chem. Chem. Phys.

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From Sanger Sequencing to Genome Databases and Beyond

Abstract: We look at how next-generation sequencing has advanced research across different disease fields, and the growing importance of open access genomic databases.

Cited by 23 publications

References 9 publications

A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*

A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*

Predicting protein stability and solubility changes upon mutations: data perspective

High throughput sequencing of in vitro selections of mRNA-displayed peptides: data analysis and applications

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