We report incidence and deep molecular characteristics of lineage switch in 182 pediatric
patients affected by B-cell precursor acute lymphoblastic leukemia (BCP-ALL), who were …

High-resolution insights into the nucleotide arrangement within an organism's genome are
pivotal for deciphering its genetic composition, function, and evolutionary trajectory. Over the …

Whole exome sequencing (WES) is essential for identifying genetic variants linked to
diseases. This study compares available to date four exome enrichment kits: Agilent …

Backgrounds. Our recent analysis of 1200+ existing missense ACE mutations revealed that
400+ mutations are damaging and led us to hypothesize that carriers of heterozygous loss …

IgA nephropathy (IgAN) is an autoimmune disorder which is believed to be non-monogenic.
We performed an exome-wide association study of 70 children with IgAN and 637 healthy …

Traumatic brain injury (TBI) is the leading cause of global mortality and morbidity. Because
TBI is accident-related, the role of genetics in predisposing to TBI has been largely …

We hypothesized that subjects with heterozygous loss-of-function (LoF) ACE mutations are
at risk for Alzheimer's disease because amyloid Aβ42, a primary component of the protein …

Deoxyribonucleic acid (DNA) methylation plays a key role in gene regulation and is critical
for development and human disease. Techniques such as whole-genome bisulfite …

Changes in red blood cell (RBC)-related parameters and anemia are common in both
severe chronic and acute diseases. RBC-related phenotypes have a heritable component …

Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests,
accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 …