Results 81 to 90 of about 4,000 (206)

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

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

Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 [PDF]

The American Journal of Human Genetics, 2000
Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe microcephaly, and dysmorphic facial appearance with receding forehead, prominent nose, and micrognathia. We have performed a genomic screen in two consanguineous families of Pakistani origin and found that the disorder segregates with markers between loci ...
Goodship, Judith, Gill, Harinder, Carter, Joan, Jackson, Andrew, Splitt, Miranda, Wright, Michael   +5 more
openaire   +3 more sources

Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity. [PDF]

, 2019
Runs of homozygosity (ROH) are important genomic features that manifest when an individual inherits two haplotypes that are identical by descent. Their length distributions are informative about population history, and their genomic locations are useful ...
Burchard, Esteban G, Eng, Celeste, Hernandez, Ryan D, Hu, Donglei, Mak, Angel CY, Szpiech, Zachary A, White, Marquitta J   +6 more
core  

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

, 2017
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc, David, Philippe, Desmyter, Laurence, Duerinckx, Sarah, Perazzolo, Camille, Pirson, Isabelle, Verhelst, Helene   +6 more
core   +2 more sources

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

Runs of Homozygosity as Footprints of Selection in the Norik of Muran Horse Genome

Acta Universitatis Agriculturae et Silviculturae Mendelianae Brunensis, 2019
The aim of this study was to analyse the genome-wide distribution of runs of homozygosity (ROH) segments in the genome of Norik of Muran horse and to identify the regions under strong selection pressure. Overall, 25 animals genotyped by the GGP Equine70k
Nina Moravčíková, Radovan Kasarda, Ondrej Kadlečík, Anna Trakovická, Marko Halo, Juraj Candrák   +5 more
doaj   +1 more source

An integrated Bayesian analysis of LOH and copy number data [PDF]

, 2016
BACKGROUND Cancer and other disorders are due to genomic lesions. SNP-microarrays are able to measure simultaneously both genotype and copy number (CN) at several Single Nucleotide Polymorphisms (SNPs) along the genome. CN is defined as the number of DNA
Bertoni, Francesco, Hutter, Marcus, Kwee, Ivo, Rancoita, Paola M. V.   +3 more
core   +1 more source

Genomic insights into the population structure and genetic diversity of Ugandan indigenous cattle

Animal Genetics, Volume 56, Issue 6, December 2025.
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, Donald R. Kugonza, Daniil Ruvinskiy, Melak Weldenegodguad, Nasser Ghanem, Mahlako L. Makgahlela, Catarina Ginja, Richard P. M. A. Crooijmans, Juha Kantanen, Pekka Uimari, Kisun Pokharel   +10 more
wiley   +1 more source

KinSNP software for homozygosity mapping of disease genes using SNP microarrays

Human Genomics, 2010
Consanguineous families affected with a recessive genetic disease caused by homozygotisation of a mutation offer a unique advantage for positional cloning of rare diseases.
Amir El-Ad, Bartal Ofer, Morad Efrat, Nagar Tal, Sheynin Jony, Parvari Ruti, Chalifa-Caspi Vered   +6 more
doaj   +1 more source