Scientific Publications
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Clinical Exome Sequencing – Results from 2819 Samples Reflecting 1000 Families
A study was conducted using whole exome sequencing (WES) to identify underlying pathogenic variants, or likely pathogenic variants, in 1,000 diagnostic cases from 54 different countries. Patients […]
Global Genotype–Phenotype Database for Rare Diseases
"The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the […]
Guidelines for Diagnostic Next-Generation Sequencing
The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients’ representatives, and other stakeholders in the field […]
Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing
During the last few months we have observed for the first time since the introduction of the first massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed […]
Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR
Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more […]
Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Diagnostics of Breast and/or Ovarian Cancer
We explored a more efficient genetic screening strategy based on next-generation sequencing of the BRCA1 and BRCA2 genes in 210 hereditary breast and/or ovarian cancer patients.