Results 61 to 70 of about 1,564 (152)

Accurate Runs of Homozygosity Estimation From Low Coverage Genome Sequences in Non‐Model Species

Molecular Ecology Resources, Volume 26, Issue 1, January 2026.
ABSTRACT Runs of homozygosity (ROH) are increasingly being analysed using whole genome sequences in non‐model species as a measure of inbreeding and to assess demographic history, thus providing useful information for conservation. However, most studies have used Plink for ROH inference which performs poorly when sequencing depth is below 10×, often ...
Rebecca S. Taylor, Micheline Manseau, Paul J. Wilson   +2 more
wiley   +1 more source

Genomic dissection of inbreeding depression: a gate to new opportunities

Revista Brasileira de Zootecnia
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, Maja Ferenčaković, Johann Sölkner   +2 more
doaj   +1 more source

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

Computational and Structural Biotechnology Journal, 2020
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, Tania Giangregorio, Roberto Semeraro, Giulia Carangelo, Flavia Palombo, Giovanni Romeo, Marco Seri, Tommaso Pippucci   +7 more
doaj   +1 more source

Genomic Architecture of Inbreeding Depression Associated With Hatching Failure in an Endangered Parrot

Molecular Ecology, Volume 35, Issue 2, January 2026.
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, Stefanie Grosser, Brodie J. Foster, Nicolas Dussex, Aimee Stubbs, Ludovic Dutoit, Theo Atkinson, Fiona Robertson, Ken G. Dodds, Rudiger Brauning, Jeanne M. E. Jacobs, John C. McEwan, Bruce C. Robertson   +12 more
wiley   +1 more source

Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
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, Mohammad Khalil, Abed Kabaha, Rafat Zuriqi, Mohammad Masu’d, Osamu Isozaki   +5 more
wiley   +1 more source

Inbreeding and runs of homozygosity before and after genomic selection in North American Holstein cattle

BMC Genomics, 2018
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, Saeid Ansari Mahyari, Christine Baes, Nina Melzer, Flavio Schramm Schenkel, Mehdi Sargolzaei   +5 more
doaj   +1 more source

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. [PDF]

PLoS Genetics, 2006
The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor.
J Raphael Gibbs, Andrew Singleton
doaj   +1 more source

Whole‐Genome Sequencing in Galicia Reveals Male‐Biased Pre‐Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk

The FASEB Journal, Volume 39, Issue 24, 31 December 2025.
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, Alba Camino‐Mera, Xabier Bello, Alberto Gómez‐Carballa, Lúa Castelo‐Martínez, Conrado Martínez‐Cadenas, Federico Martinón‐Torres, Antonio Salas   +7 more
wiley   +1 more source

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
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, Matthew Adams, Anees Muhammad, Raeesa Tehreen, Arfa Azeem, Asif Ahmed, Nishanka Ubeyratna, Claire G. Salter, Joseph S. Leslie, Nikol Voutsina, Emma L. Baple, Andrew H. Crosby, Sabika Firasat, Muhammad Tahir Sarwar, Shamim Saleha, Asma Gul, Lettie E. Rawlins   +16 more
wiley   +1 more source

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

PLoS Genetics, 2013
The use of autozygosity as a mapping tool in the search for autosomal recessive disease genes is well established. We hypothesized that autozygosity not only unmasks the recessiveness of disease causing variants, but can also reveal natural knockouts of ...
Ahmed B Alsalem, Anason S Halees, Shamsa Anazi, Shomoukh Alshamekh, Fowzan S Alkuraya   +4 more
doaj   +1 more source