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The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations an...
The ENCODE and modENCODE consortia have generated a resource containing large amounts of transcriptomic data, extensive mapping of chromatin states, as well as the binding locations of >30...
Vaginitis and vaginosis, including Bacterial Vaginosis (BV), Vulvovaginal Candidiasis (VVC), and Trichomoniasis (TV), are extremely common conditions, consuming many healthcare resources and...
Pharmcogenomics (PGx) is the 2nd potential clinical application of genomic medicine, preceded by genomic application for cancer. In the recently published, 2012 Institute of Medicine report o...
Obesity is a disease. It was once not considered to be a disease and to be a matter of will power and gluttony. It was also the case that we once thought that fat tissue had no metabolic func...
Early infantile rickets is the least appreciated form of this ancient disease of children. Although it is usually subclinical, the high prevalence recently reported at autopsy (87% < 1 yea...