JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...
Key findings from prospective evaluation of 200 prenatal samples: For 8 copy number variants (CNVs) detected by CMA, OGM defined their location and orientation and revealed that they were 6 tandem ...
Would you want to know if your unborn baby is at risk of autism? Researchers wrapping up a 4,406-patient study say that a new genetic test that analyzes fetal DNA in more detail than current prenatal ...
Depth evaluation of LP GS. (A) Total detection sensitivity of LP GS for 155 CNVs. The dotted green line shows the optimal UAHRs (25 M). (B)Evaluation of the performance of LP GS using samples with 25 ...
Prenatal imaging identified situs inversus totalis, and whole exome sequencing found DNAH11 variants. The case highlights how ...
FRAMINGHAM, Mass.--(BUSINESS WIRE)--Variantyx, a leader in genomic precision medicine, today announced the launch of its IriSight™ CNV Analysis - a whole genome-based test for the detection of ...
Sensitivity: 97.4% Specificity: 100% Positive Predictive Value (PPV): 100% Negative Predictive Value (NPV): 99.4% For 8 copy number variants (CNVs) detected by CMA, OGM defined their location and ...
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