A paper titled “Clinical application of whole-exome sequencing across clinical indications” was published by Genetics in Medicine today. The study analyzed 3,040 consecutive cases assayed for molecular diagnosis at a single clinical laboratory. For 76% of cases, two or more...
Cigna, one of the largest medical insurance companies in the world, published a document on coverage policy for clinical genome and exome sequencing. The policy can be accessed from here. Briefly, the policy contains three separate sections on genetic counseling,...
A paper titled “Guidelines for diagnostic next-generation sequencing” was published by European Journal of Human Genetics today. The article is freely available at here. This was published for EuroGentest and the European Society of Human Genetics, as a set of...
An integrated map of structural variation in 2,504 human genomes from the 1000 Genomes Project was published by Nature today. In the study, the authors analyzed structural variants from 2,504 human genomes in 26 human populations who were sequenced by...
A paper titled “Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder” was published by JAMA today. In the study, the authors compared the diagnostic yield of chromosomal microarray analysis (CMAs) versus exome...
The New England Journal of Medicine published a paper titled “Cell-free DNA Analysis for Noninvasive Examination of Trisomy” today, suggesting that cfDNA testing for trisomy 21 had higher sensitivity, a lower false positive rate, and higher positive predictive value than...
A paper titled “Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology” was published by Genetics in Medicine today. The article...