- Home
- Software
- switzerland
- phenotype
Show results for
Refine by
Phenotype Software In Switzerland
5 software items found
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
Next-generation sequencing (NGS) of the human exome has the potential to identify pathogenic variants responsible for complex phenotypes associated with rare ...
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
Over the last decade, substantial progress has been made in the discovery of genetic variants influencing a range of metabolic diseases.1 The advances in next generation sequencing (NGS) technologies have contributed to elucidation of the pathogenic role of variants associated with metabolic phenotypes, leading to a significant improvement in the throughput and diagnostic rate. ...
by:BC Platforms based inZürich, SWITZERLAND
BC | INSIGHT is a data and research management solution for clinical genomics studies. Genomic and phenotypic data is collected and stored on the platform, and users have access to data and tools through an application account. All common data types for NGS, GWAS, variant analysis, linkage, and other statistics can be managed on the platform. ...
by:BC Platforms based inZürich, SWITZERLAND
BC|RQUEST as a private service enables availability queries and aggregated analysis on biobanks or internal data silos through a simple web interface for query building and analysis creation. Additionally, BC|RQUEST gives biobanks tools to manage their research project portfolio and research user capability to request and follow projects through integrated ...
by:SOPHiA Genetics based inBoston, MASSACHUSETTS (USA)
Most rare and inherited diseases have a neurological component, likely because more than 80% of human genes are expressed in the brain.1 Neurological disorders are multifactorial and heterogeneous, meaning that their genetic basis is often poorly understood. Indeed, only 30-50% of neurological disorders have a molecular genetic diagnosis.2 ...