International audienceNext Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single Nucleotide Variants (SNVs) or small indels. Structural Variants (SVs) are often underdiagnosed in inherited genetic diseases, probably because few user-friendly tools are available for biologists or geneticists to identify them easily. We present here the diagnosis of two brothers presenting a demyelinating motor-sensitive neuropathy: a presumed homozygous c.5744_5745delAT in exon 10 of SACS gene was initially detected, while actually these patients were heterozygous for this mutation and ...
Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both ...
Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy numbe...
International audienceDiagnosis of dystrophinopathies needs to combine several techniques for detect...
Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of ...
Structural variation (SV) describes a broad class of genetic variation greater than 50 bp in size. S...
Structural variation (SV) describes a broad class of genetic variation greater than 50 bp in size. S...
Contains fulltext : 174063.pdf (publisher's version ) (Open Access)PURPOSE: Copy-n...
Rapid advances in genomic technologies have facilitated the identification pathogenic variants causi...
Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy pers...
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, a...
Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogene...
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They r...
Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to...
Item does not contain fulltextAIMS: The causes of intellectual disability, which affects 1%-3% of th...
Introduction: Variant detection protocols for clinical next-generation sequencing (NGS) need applica...
Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both ...
Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy numbe...
International audienceDiagnosis of dystrophinopathies needs to combine several techniques for detect...
Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of ...
Structural variation (SV) describes a broad class of genetic variation greater than 50 bp in size. S...
Structural variation (SV) describes a broad class of genetic variation greater than 50 bp in size. S...
Contains fulltext : 174063.pdf (publisher's version ) (Open Access)PURPOSE: Copy-n...
Rapid advances in genomic technologies have facilitated the identification pathogenic variants causi...
Improvement in DNA technology is increasingly revealing unexpected/unknown mutations in healthy pers...
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, a...
Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogene...
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They r...
Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to...
Item does not contain fulltextAIMS: The causes of intellectual disability, which affects 1%-3% of th...
Introduction: Variant detection protocols for clinical next-generation sequencing (NGS) need applica...
Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both ...
Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy numbe...
International audienceDiagnosis of dystrophinopathies needs to combine several techniques for detect...