Single-nucleotide polymorphisms (SNPs) are single-base variants that contribute to human
biological variation and pathogenesis of many human diseases. Among all SNP types …

Background The widespread clinical application of genome-wide sequencing has resulted
in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of …

Despite significant progress in unraveling the genetic causes of neurodevelopmental
disorders (NDDs), a substantial proportion of individuals with NDDs remain without a …

The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple
membrane modeling and membrane-independent cellular processes. Here we describe six …

To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children,
a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric …

Background Variants in the GABRA2 gene, which encodes the α2 subunit of the γ‐
aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic …

Tek nükleotid varyantları (TNV'ler), gen ekspresyonu, protein katlanması ve diğerleri
arasında protein-protein etkileşimleri dahil olmak üzere hücredeki birçok biyolojik işlevi …

Abstract Constrained Coding Regions (CCRs) in the human genome have been derived
from DNA sequencing data of large cohorts of healthy control populations, available in the …

Background Developmental and epileptic encephalopathy 78 is a severe neurological
disease characterized by intractable seizures and severe intellectual disability (ID). It was …

To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children,
a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric …