Objectives: The study aimed to investigate the clinical use of noninvasive prenatal testing (NIPT) for common fetal aneuploidies as a prenatal screening tool for the detection of rare chromosomal ...

For the latter, there are various factors that can influence genomic inbreeding coefficients, such as methodology (e.g., summing homozygosity over individual SNP vs. summing homozygous blocks), ...

Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and ...

Background Progressive supranuclear palsy (PSP) and frontotemporal dementia (FTD) are related disorders. Homozygosity for H1 haplotype is associated with PSP, whereas several MAPT mutations have been ...

By analyzing "runs of homozygosity"—stretches of identical DNA inherited from both parents—the researchers detected a slight rise in inbreeding in horses in the younger group but stressed that ...

The highest prevalence of C282Y homozygosity is 1:250, seen in populations of North European ancestry. Low circulating hepcidin due to decreased hepatic expression of hepcidin resulting from ...

[Courtesy of Chen et al., Neuron.] To Arboleda-Velasquez’s mind, the findings have far-reaching implications for therapeutic development. “It is now evident that [ApoE3Ch] homozygosity may not be ...

By analyzing "runs of homozygosity"—stretches of identical DNA inherited from both parents—the researchers detected a slight rise in inbreeding in horses in the younger group but stressed that ...

By analyzing “runs of homozygosity” (ROH)—stretches of identical DNA inherited from both parents—the researchers detected a slight rise in inbreeding in horses in the younger group but ...

Sickle-cell anaemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anaemia is also referred to as "HbSS", "SS ...