With an increasing amount of biological data available publicly, there is a need for a guide
on how to successfully download and use this data. The 10 simple rules for using public …

Background: A major obstacle faced by rare disease families is obtaining a genetic diagnosis.
The average “diagnostic odyssey” lasts over five years, and causal variants are identified …

Background & aims Children with cystic fibrosis (CF) are susceptible to fat-soluble vitamin
deficiencies unless supplemented, but even large doses of vitamin D may not prevent low 25-…

Background When applying genomic medicine to a rare disease patient, the primary goal is
to identify one or more genomic variants that may explain the patient’s phenotypes. Typically…

Juxtaglomerular cell tumor (JGCT) is a rare neoplasm, part of the family of mesenchymal
tumors of the kidney. Although the pathophysiological and clinical correlates of JGCT are well-…

The purpose of this investigation is to determine whether a large oligomeric protein, inorganic
pyrophosphatase (IPPase) from Thermococcus thioreducens with quaternary structural …

Purpose Clinical whole genome sequencing is becoming more common for determining the
molecular diagnosis of rare disease. However, standard clinical practice often focuses on …

One in ten individuals lives with a rare genetic disease;~ 50% are children. Recent advances
have revolutionized our ability to identify candidate and confirmed causal molecular …

Accurate diagnosis for the 400 million people with rare diseases is critical for healthcare
decisions, prognosis, understanding disease mechanisms, and identification of treatments. …

Quality Control (QC) of human genome sequencing and exome sequencing data is necessary
to ensure they are of sufficient quality for downstream analyses. While several QC tools …