Daniel P. Lewinsohn
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View article: Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual
Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual Open
Introduction: Next-generation sequencing (NGS) data analysis has become an integral part of clinical genetic diagnosis, raising the question of variant prioritization. The Population Sampling Probability (PSAP) method has been developed to…
View article: PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis
PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis Open
The introduction of Next‐Generation Sequencing technologies in the clinics has improved rare disease diagnosis. Nonetheless, for very heterogeneous or very rare diseases, more than half of cases still lack molecular diagnosis. Novel strate…
View article: PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis
PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis Open
The introduction of next generation sequencing technologies in the clinics has improved rare disease diagnosis. Nonetheless, for very heterogeneous or very rare diseases, more than half of cases still lack molecular diagnosis. Novel strate…
View article: Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome Open