Results 51 to 60 of about 66,200 (304)

A systematic approach to mapping recessive disease genes in individuals from outbred populations. [PDF]

open access: yesPLoS Genetics, 2009
The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome these limitations, we apply homozygosity mapping to single affected individuals from outbred ...
Friedhelm Hildebrandt   +27 more
doaj   +1 more source

Assessment of runs of homozygosity islands and estimates of genomic inbreeding in Gyr (Bos indicus) dairy cattle

open access: yesBMC Genomics, 2018
Runs of homozygosity (ROH) are continuous homozygous segments of the DNA sequence. They have been applied to quantify individual autozygosity and used as a potential inbreeding measure in livestock species.
E. Peripolli   +9 more
semanticscholar   +1 more source

KinSNP software for homozygosity mapping of disease genes using SNP microarrays

open access: yesHuman 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   +6 more
doaj   +1 more source

Genome-Wide Analysis Revealed Homozygosity and Demographic History of Five Chinese Sheep Breeds Adapted to Different Environments

open access: yesGenes, 2020
Homozygosity of long sequence genotypes are a result of parents transmitting identical haplotypes, which can be used to estimate their auto-zygosity. Therefore, we used high-density SNP Chip data to characterize the auto-zygosity of each breed according ...
Adam Abied   +12 more
semanticscholar   +1 more source

Heterotic potential for Physalis peruviana fruit traits in hybrid combinations [PDF]

open access: yesRevista Brasileira de Fruticultura
: The breeding of Physalis peruviana is incipient in Brazil and is shown to be the most promising alternative for the development of productive genotypes with fruit quality.
Nicole Trevisani   +5 more
doaj   +1 more source

Genetic insights into Alpine goats raised on Lombardy’s farms

open access: yesFrontiers in Animal Science
This study investigates the genomic architecture of two Alpine dairy goat breeds, Camosciata delle Alpi (CAM) and Saanen (SAA), managed in ten herds located in Lombardy, northern Italy.
Carlotta Ferrari   +5 more
doaj   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall   +2 more
wiley   +1 more source

Genome-Wide Runs of Homozygosity, Effective Population Size, and Detection of Positive Selection Signatures in Six Chinese Goat Breeds

open access: yesGenes, 2019
Detection of selection footprints provides insight into the evolution process and the underlying mechanisms controlling the phenotypic diversity of traits that have been exposed to selection.
R. Islam   +7 more
semanticscholar   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo   +5 more
wiley   +1 more source

The footprint of recent and strong demographic decline in the genomes of Mangalitza pigs

open access: yesAnimal, 2019
The Mangalitza pig breed has suffered strong population reductions due to competition with more productive cosmopolitan breeds. In the current work, we aimed to investigate the effects of this sustained demographic recession on the genomic diversity of ...
V.A. Bâlteanu   +6 more
doaj   +1 more source

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