Results 11 to 20 of about 349,548 (267)

Compressed Genotyping [PDF]

open access: yesIEEE Transactions on Information Theory, 2010
Significant volumes of knowledge have been accumulated in recent years linking subtle genetic variations to a wide variety of medical disorders from Cystic Fibrosis to mental retardation. Nevertheless, there are still great challenges in applying this knowledge routinely in the clinic, largely due to the relatively tedious and expensive process of DNA ...
Yaniv Erlich   +4 more
openaire   +3 more sources

Genotype Imputation [PDF]

open access: yesAnnual Review of Genomics and Human Genetics, 2009
Genotype imputation is now an essential tool in the analysis of genome-wide association scans. This technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation is particularly useful for combining results across studies that rely on different genotyping ...
Yun Li   +3 more
openaire   +3 more sources

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

open access: yesGenome Biology, 2019
Background Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases.
Shunichi Kosugi   +5 more
doaj   +1 more source

The Polymorphism of Pituitary Factor 1 (POU1F1) in Cattle

open access: yesScientific Papers Animal Science and Biotechnologies, 2023
The development and function of mammary gland is mainly controlled by growth hormone and prolactin, two protein hormones secreted by the anterior pituitary gland.
Teodora Crina Carsai   +3 more
doaj  

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

open access: yesStem Cell Research, 2019
Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. The generated
Arantxa Bolinches-Amorós   +6 more
doaj   +1 more source

Genomic analysis and identification of potential duplicate accessions in Burkina Faso cassava germplasm based on single nucleotide polymorphism

open access: yesFrontiers in Sustainable Food Systems, 2023
Cassava adaptation to climate change and its resistance to diseases are essential prerequisites for achieving food security in sub-Saharan Africa. The accessions collected from farmers’ fields are very important because they can provide new sources of ...
Monique Soro   +20 more
doaj   +1 more source

VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy

open access: yesBMC Bioinformatics, 2017
Background The possibility of integrating viral vectors to become a persistent part of the host genome makes them a crucial element of clinical gene therapy.
José M. Juanes   +7 more
doaj   +1 more source

Genotyping

open access: yesEgyptian Journal of Aquatic Research, 2014
Culture-independent 16S rRNA gene analysis approach was used to explore and evaluate archaea in a polluted site, El-Zeitia, Suez Gulf, Egypt. Metagenomic DNA was extracted from a sediment sample.
Hosam Easa Elsaied
doaj   +1 more source

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