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Article
Open AccessStandards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
The Ataxia Global Initiative (AGI) is a worldwide multi-stakeholder research platform to systematically enhance trial-readiness in degenerative ataxias. The next-generation sequencing (NGS) working group of th...
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Article
Open AccessRare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Sy...
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Article
Open AccessQuantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers
Somatic single-nucleotide variants (SNVs) occur every time a cell divides, appearing even in healthy tissues at low frequencies. These mutations may accumulate as neutral variants during aging, or eventually, ...
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Article
Open AccessClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algori...
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Article
The GA4GH Phenopacket schema defines a computable representation of clinical data
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Open AccessCorrection to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
An amendment to this paper has been published and can be accessed via the original article.
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Article
Open AccessBehr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular ...
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Article
Open AccessFramework for quality assessment of whole genome cancer sequences
Bringing together cancer genomes from different projects increases power and allows the investigation of pan-cancer, molecular mechanisms. However, working with whole genomes sequenced over several years in di...
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Article
Open AccessA guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
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Article
A call for global action for rare diseases in Africa
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opp...
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Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Leveraging European infrastructures to access 1 million human genomes by 2022
Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To m...
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Article
Open AccessClonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia
Chronic lymphocytic leukaemia is the most prevalent leukaemia in Western countries. It is an incurable disease characterized by a highly variable clinical course. Chronic lymphocytic leukaemia is an ideal mode...
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Article
Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
In the supplementary information PDF originally posted, there were discrepancies from the integrated supplementary information that appeared in the HTML; the former has been corrected as follows. In the legend...
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Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
The formation of the vertebrate brain requires the generation, migration, differentiation and survival of neurons. Genetic mutations that perturb these critical cellular events can result in malformations of t...
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Article
Open AccessBenchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared...
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Article
Open AccessIdentification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes
Taste receptors (TASRs) are essential for the body’s recognition of chemical compounds. In the tongue, TASRs sense the sweet and umami and the toxin-related bitter taste thus promoting a particular eating beha...
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Article
Open AccessA comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
As whole-genome sequencing for cancer genome analysis becomes a clinical tool, a full understanding of the variables affecting sequencing analysis output is required. Here using tumour-normal sample pairs from...
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Article
Open AccessRuns of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses
Modern horses represent heterogeneous populations specifically selected for appearance and performance. Genomic regions under high selective pressure show characteristic runs of homozygosity (ROH) which repres...
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Article
Open AccessGenomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over
Exome sequencing has become a popular method to evaluate undirected mutagenesis experiments in mice. However, the most suitable mouse strain for the biological model may be relatively distant from the standard...
