Javier Santoyo‐López

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

Prasun Dutta, Alistair T. Pagnamenta, Christelle A. M. Robert, Anthony McGuigan et autres

Abstract Whole-genome sequencing (WGS) projects for rare disease diagnosis typically yield a diagnostic rate of 25–41%, depending on the methods for patient selection and the extent of prior genetic testing. The Scottish Genomes Partnership (SGP) is a collaborative programme using genome sequencing …

gb (code pays fourni par la source)

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert, Anthony McGuigan et autres

Whole-genome sequencing (WGS) projects for rare disease diagnosis typically yield a diagnostic rate of 25-41%, depending on the methods for patient selection and the extent of prior genetic testing. The Scottish Genomes Partnership (SGP) is a collaborative programme using genome sequencing to …

Genetic background sets the trajectory of experimental cancer evolution

Sarah J. Aitken, Frances Connor, Christine Feig, Tim F. Rayner et autres

Abstract Human cancers are heterogeneous 1 . Dissecting how germline genetic variation and environmental factors shape tumour evolution using human datasets is limited by inherent diversity in genetic backgrounds 2 and environmental exposures 3–5 . Here, to overcome these limitations, we re-ran …

gb, us, es, de (code pays fourni par la source)

Genetic background sets the trajectory of experimental cancer evolution.

Sarah Aitken, Frances Connor, Christine Feig, Tim F. Rayner et autres

A workflow for practical training in plant genomics using Oxford Nanopore long‐read sequencing

Robert G. Foster, Heleen De Weerd, Nathan C. Medd, Tim Booth et autres

Societal Impacts Statement Advances in DNA sequencing technologies are revolutionising all areas of plant genomic research. In response to the current deficit of educational resources in modern plant genomic methods, we have developed a comprehensive genomics training course for sequencing and analysing …

gb (code pays fourni par la source)

Genetic background sets the trajectory of cancer evolution

Sarah J. Aitken, Frances Connor, Christine Feig, Tim F. Rayner et autres

Abstract Human cancers are heterogeneous. Their genomes evolve from genetically diverse germlines in complex and dynamic environments, including exposure to potential carcinogens. This heterogeneity of humans, our environmental exposures, and subsequent tumours makes it challenging to understand the extent to which cancer …

us, gb, ru, de, es (code pays fourni par la source)

A workflow for practical training in ecological genomics using Oxford Nanopore long-read sequencing

Robert S. Foster, Heleen De Weerd, Nathan C. Medd, Tim Booth et autres

Abstract Long-read single molecule sequencing technologies continue to grow in popularity for genome assembly and provide an effective way to resolve large and complex genomic variants. However, uptake of these technologies for teaching and training is hampered by the complexity of high …

gb (code pays fourni par la source)

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

Holly A. Black, Sophie Marion de Procé, José Luis Campos, Alison M. Meynert et autres

BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway disease, subfertility, and …

gb (code pays fourni par la source)

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane Araújo Martins Moreno et autres

Abstract Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed …

us, br, nl, gb, gr, il (code pays fourni par la source)

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia

Holly A. Black, Sophie Marion de Procé, José Luis Campos, Alison M. Meynert et autres

Abstract Aim Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in more than 50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway …

gb (code pays fourni par la source)

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane Araújo Martins Moreno et autres

Abstract Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 30,000 people in the United States. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% …

us, br, gb (code pays fourni par la source)

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Anthony M. Vandersteen, Ruwan Alwis Weerakkody, David A.D. Parry, Christina Kanonidou et autres

BACKGROUND: The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. METHODS: Whole exome sequencing (WES) was undertaken on 174 EDS patients recruited …

ca, gb, Soudan du Sud (code pays fourni par la source)