Results 71 to 80 of about 2,131 (168)
ABSTRACT Conservation management of endangered species increasingly relies on genomic approaches to understand how long‐term small population sizes affect the fitness of extant individuals. However, despite the growing investment in genomic resources by conservation programmes, the impact that sequencing methods have on the ability to detect inbreeding‐
Yasmin Foster +12 more
wiley +1 more source
Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy
Background Central congenital hypothyroidism (C‐CH) due to thyroid‐stimulating hormone beta (TSHB) variants is rare and often missed by thyroid‐stimulating hormone (TSH)–based neonatal screening. Adenosine deaminase acting on RNA (ADAR)‐related Aicardi–Goutières syndrome type 6 (AGS6) is an interferonopathy with early‐onset encephalopathy.
Tamer Draidi +5 more
wiley +1 more source
Effects of autozygosity and schizophrenia polygenic risk on cognitive and brain developmental trajectories [PDF]
ABSTRACT Cognitive and brain development are determined by dynamic interactions between genes and environment across the lifespan. Aside from marker-by-marker analyses of polymorphisms, biologically meaningful features of the whole-genome (derived from the combined effect of individual markers) have been postulated to inform on human ...
Aldo Córdova-Palomera +11 more
openaire +2 more sources
Whole genome sequencing of Galicians (GALOMICS; 17.2 M variants) reveals a genetic landscape consistent with broader Iberian patterns, characterized by only five clusters. Phylogenetic analyses indicate recent divergence and mild regional inbreeding.
Jacobo Pardo‐Seco +7 more
wiley +1 more source
Genomic dissection of inbreeding depression: a gate to new opportunities
Inbreeding depression, reduction in performance of quantitative traits, including reproduction and survival, caused by inbreeding, is a well-known phenomenon observed in almost all experimental, domesticated, and natural populations.
Ino Curik +2 more
doaj +1 more source
ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid +16 more
wiley +1 more source
Runs of Homozygosity (RoHs) are popular among geneticists as the footprint of demographic processes, evolutionary forces and inbreeding in shaping our genome, and are known to confer risk of Mendelian and complex diseases.
Alberto Magi +7 more
doaj +1 more source
Genomic insights into the population structure and genetic diversity of Ugandan indigenous cattle
Abstract Domestic cattle in Africa can be categorized as either taurine (Bos taurus) or indicine (Bos indicus) based on their domestication histories from the extinct aurochs (Bos primigenius). Close to 150 breeds of indigenous cattle are estimated to exist in Africa and have a complex mixture of B. taurus and B. indicus ancestries.
Rodney Okwasiimire +10 more
wiley +1 more source
Background While autozygosity as a consequence of selection is well understood, there is limited information on the ability of different methods to measure true inbreeding.
Mehrnush Forutan +5 more
doaj +1 more source
Population Genomics of Incipient Allochronic Divergence in the Pine Processionary Moth
ABSTRACT Allochronic divergence is a key evolutionary mechanism that can frequently lead to incipient speciation. Although theoretical models suggest that such divergence is notably facilitated by small population size and genetic polymorphisms influencing reproductive timing, though constrained by genetic load, empirical validation remains limited. We
Tanguy Muller +7 more
wiley +1 more source

