The identification of the genetic components of autism spectrum disorders (ASDs) has
advanced rapidly in recent years, particularly with the demonstration of de novo mutations …

Congenital heart disease (CHD) is the most common congenital malformation, with
evidence of a strong genetic component. We analyzed data from 223 consecutively …

Cell-free DNA (cfDNA) analysis has shown potential in detecting early-stage lung cancer
based on non-genetic features. To distinguish patients with lung cancer from healthy …

Although heritable factors are an important determinant of risk of early-onset cancer, the
majority of these malignancies appear to occur sporadically without identifiable risk factors …

Copy number variation (CNV) detection has become an integral part many of genetic studies
and new technologies promise to revolutionize our ability to detect and link them to disease …

Diagnostic DNA hybridization relies on probes composed of single copy (sc) genomic
sequences. Sc sequences in probe design ensure high specificity and avoid cross …

System noise was analyzed in 77 Affymetrix 6.0 samples from a previous clinical study of
copy number variation (CNV). Twenty-three samples were classified as eligible for CNV …

Chromosomal microarray testing is indicated for patients with diagnoses including
unexplained developmental delay or intellectual disability, autism spectrum disorders, and …

Reproducibility of results obtained using RNA data across labs remains a major hurdle in
cancer research. Often, molecular predictors trained on one dataset cannot be applied to …

Although heritable factors are an important determinant of risk of early-onset cancer, the
majority of these malignancies appear to occur sporadically without identifiable risk factors …