Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. Here, we extend this paradigm by evaluating novel bioinformatics approaches to aid identification of new gene–disease associations. Methods: We analyzed 119 trios to identify both diagnostic genotypes in known genes and candidate genotypes in novel genes. We considered qualifying genotypes based on their population frequency and in silico predicted effects we also characterized the patterns of genotypes enriched among this collection of patients. Results: We obtained a genetic diagnosis fo...
International audienceDevelopmental disorders (DD), characterized by malformations/dysmorphism and/o...
The recent improvement in high throughput sequencing technologies has led to the sharp decrease in t...
International audienceIn clinical exome sequencing (cES), the American College of Medical Genetics a...
Spontaneously arising mouse mutations have served as the foundation for understanding gene function ...
Spontaneously arising mouse mutations have served as the foundation for understanding gene function ...
Spontaneously arising mouse mutations have served as the foundation for understanding gene function ...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patie...
BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose...
Rare diseases (RD) are a heterogeneous group of diseases that affect about 5% of the world populatio...
Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such tec...
International audienceDevelopmental disorders (DD), characterized by malformations/dysmorphism and/o...
International audienceIn clinical exome sequencing (cES), the American College of Medical Genetics a...
The recent advent of next-generation sequencing technologies has dramatically changed the nature of ...
International audienceDevelopmental disorders (DD), characterized by malformations/dysmorphism and/o...
The recent improvement in high throughput sequencing technologies has led to the sharp decrease in t...
International audienceIn clinical exome sequencing (cES), the American College of Medical Genetics a...
Spontaneously arising mouse mutations have served as the foundation for understanding gene function ...
Spontaneously arising mouse mutations have served as the foundation for understanding gene function ...
Spontaneously arising mouse mutations have served as the foundation for understanding gene function ...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
Over the past several years whole exome sequencing (WES) by high-throughput sequencing of target-enr...
Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patie...
BACKGROUND: There is considerable interest in the use of next-generation sequencing to help diagnose...
Rare diseases (RD) are a heterogeneous group of diseases that affect about 5% of the world populatio...
Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such tec...
International audienceDevelopmental disorders (DD), characterized by malformations/dysmorphism and/o...
International audienceIn clinical exome sequencing (cES), the American College of Medical Genetics a...
The recent advent of next-generation sequencing technologies has dramatically changed the nature of ...
International audienceDevelopmental disorders (DD), characterized by malformations/dysmorphism and/o...
The recent improvement in high throughput sequencing technologies has led to the sharp decrease in t...
International audienceIn clinical exome sequencing (cES), the American College of Medical Genetics a...