Purpose: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number variants (CNVs) has become a firsttier diagnostic test for patients with neurodevelopmental disorders, with a diagnostic yield of 10-20%. However, for most other genetic disorders, the role of CNVs is less clear and most diagnostic genetic studies are generally limited to the study of single-nucleotide variants (SNVs) and other small variants. With the introduction of exome and genome sequencing, it is now possible to detect both SNVs and CNVs using an exome-or genome-wide approach with a single test.Methods: We performed exome-based read-depth CNV screening on data from 2,603 patients af...
International audienceObjective To assess the efficiency and relevance of clinical exome sequencing ...
BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic a...
Next-generation sequencing (NGS) technology has rapidly replaced Sanger sequencing in the assessment...
Purpose: Copy-number variation is a common source of genomic variation and an important genetic caus...
Copy number variants (CNV) are a major cause of disease, with over 30,000 reported in the DECIPHER d...
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyz...
AbstractCopy number variation (CNV) is a common source of genetic variation that has been implicated...
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, a...
Copy number variation (CNV) is a common source of genetic variation that has been implicated in many...
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyz...
Copy number variation (CNV) is a prevalent form of critical genetic variation that leads to an abnor...
Copy number variation (CNV) is a common source of genetic variation that has been implicated in many...
Background Detection of copy number variation (CNV) in genes associated with disease is important in...
Purpose: Copy number variants have emerged as a major cause of human disease such as autism and inte...
In the human genome, DNA variants give rise to a variety of complex phenotypes. Ranging from single ...
International audienceObjective To assess the efficiency and relevance of clinical exome sequencing ...
BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic a...
Next-generation sequencing (NGS) technology has rapidly replaced Sanger sequencing in the assessment...
Purpose: Copy-number variation is a common source of genomic variation and an important genetic caus...
Copy number variants (CNV) are a major cause of disease, with over 30,000 reported in the DECIPHER d...
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyz...
AbstractCopy number variation (CNV) is a common source of genetic variation that has been implicated...
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, a...
Copy number variation (CNV) is a common source of genetic variation that has been implicated in many...
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyz...
Copy number variation (CNV) is a prevalent form of critical genetic variation that leads to an abnor...
Copy number variation (CNV) is a common source of genetic variation that has been implicated in many...
Background Detection of copy number variation (CNV) in genes associated with disease is important in...
Purpose: Copy number variants have emerged as a major cause of human disease such as autism and inte...
In the human genome, DNA variants give rise to a variety of complex phenotypes. Ranging from single ...
International audienceObjective To assess the efficiency and relevance of clinical exome sequencing ...
BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic a...
Next-generation sequencing (NGS) technology has rapidly replaced Sanger sequencing in the assessment...