Admixed populations arise when two or more ancestral populations interbreed. As a result of
this admixture, the genome of admixed populations is defined by tracts of variable size …

Next-generation sequencing (NGS) applications have flourished in the last decade,
permitting the identification of cancer driver genes and profoundly expanding the …

Most causal variants of Mendelian diseases are exonic. Whole‐exome sequencing (WES)
has become the diagnostic gold standard, but causative variant prioritization constitutes a …

The conquest of the Canary Islands by Europeans began at the beginning of the 15th
century and culminated in 1496 with the surrender of the aborigines. The collapse of 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 …

Simple Summary The incidence of the GJB2-p.(Arg143Trp) founder mutation in numerous
populations of different ethnolinguistic and geographical backgrounds has generated …

Loss‐of‐function mutations in the CYP24A1 protein‐coding region causing reduced 25
hydroxyvitamin D (25OHD) and 1, 25 dihydroxyvitamin D (1, 25 (OH) 2D) catabolism have …

The mitochondrial genome (mtDNA) is of interest for a range of fields including evolutionary,
forensic, and medical genetics. Human mitogenomes can be classified into evolutionary …

Objectives As the public's interest in companion dogs grows, health issues in these animals
are also emerging, necessitating the optimization of whole exome sequencing (WES) as a …

Idiopathic pulmonary fibrosis (IPF) is a progressive, late-onset disease marked by lung
scarring and irreversible loss of lung function. Genetic factors significantly contribute to both …