Results 61 to 70 of about 287,824 (375)

Fast Genome-Wide QTL Association Mapping on Pedigree and Population Data [PDF]

open access: yes, 2014
Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and pedigree data.
Blangero, John   +5 more
core   +1 more source

Pedigree-based estimation of human mobile element retrotransposition rates

open access: yesbioRxiv, 2018
Germline mutation rates in humans have been estimated for a variety of mutation types, including single nucleotide and large structural variants. Here we directly measure the germline retrotransposition rate for the three active retrotransposon elements:
Julie E. Feusier   +8 more
semanticscholar   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

open access: yesFEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source

Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients

open access: yesCancer Medicine, 2019
We investigated the prevalence of germline BRCA mutations in a population‐based cohort of Austrian women diagnosed with ovarian cancer and its association with family history of cancer.
Christian F. Singer   +9 more
doaj   +1 more source

Elucidation of the ‘Honeycrisp’ pedigree through haplotype analysis with a multi-family integrated SNP linkage map and a large apple (Malus×domestica) pedigree-connected SNP data set

open access: yesHorticulture Research, 2017
The apple (Malus×domestica) cultivar Honeycrisp has become important economically and as a breeding parent. An earlier study with SSR markers indicated the original recorded pedigree of ‘Honeycrisp’ was incorrect and ‘Keepsake’ was identified as one ...
N. Howard   +8 more
semanticscholar   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

open access: yesFEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin   +2 more
wiley   +1 more source

Supporting long‐term sustainability of ex situ collections using a pedigree‐based population management approach

open access: yesApplications in Plant Sciences, 2022
Premise Living collections maintained for generations are at risk of diversity loss, inbreeding, and adaptation to cultivation. To address these concerns, the zoo community uses pedigrees to track individuals and implement crosses that maximize founder ...
Jeremy A. Foster   +4 more
doaj   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

open access: yesFEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi   +5 more
wiley   +1 more source

Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia

open access: yesFrontiers in Endocrinology, 2022
BackgroundType I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is caused mainly by loss-of-function mutation of the lipoprotein lipase (LPL) gene.
Shuping Wang   +25 more
doaj   +1 more source

The effect of genomic information on optimal contribution selection in livestock breeding programs [PDF]

open access: yes, 2013
BACKGROUND: Long-term benefits in animal breeding programs require that increases in genetic merit be balanced with the need to maintain diversity (lost due to inbreeding). This can be achieved by using optimal contribution selection. The availability of
Clark, Samuel A   +3 more
core   +2 more sources

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