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Chromosomal-level genome assembly and single-nucleotide polymorphism sites of black-faced spoonbill Platalea minor. [PDF]

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Hong Kong Biodiversity Genomics Consortium .
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Hypertension and single nucleotide polymorphisms

Current Hypertension Reports, 2000
Hypertension is a common, complex disease phenotype that has been intensively studied to identify susceptibility loci in humans. Candidate genes continue to be uncovered via genetic analysis in model organisms through linkage analysis with families and/or sib-pairs and through association studies using sequence variants in genes that play a role in key
Deborah A. Nickerson, Mark J. Rieder
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Classifying single nucleotide polymorphisms in humans

Molecular Genetics and Genomics, 2021
Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation amongst the human population and are key to personalized medicine. New tests are presented to distinguish pathogenic/malign (i.e., likely to contribute to or cause a disease) from nonpathogenic/benign SNPs, regardless of whether they occur in coding (exon) or noncoding
Shima Azizzadeh-Roodpish, Max H Garzon, Sambriddhi Mainali   +2 more
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Single-Nucleotide Polymorphism Mapping

2006
Single-nucleotide polymorphism (SNP) mapping is the easiest and most reliable way to map genes in Caenorhabditis elegans. SNPs are extremely dense and usually have no associated phenotype, making them ideal markers for mapping. SNP mapping has three steps.
M. Wayne Davis, Marc Hammarlund
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Single Nucleotide Polymorphisms and Pharmacogenomics

2021
Pharmaco-genomics determines the individual genetic mechanism for drug response and has the ability to transform tailored medication into clinical practice. A huge number of individuals die every year from adverse drug response since each person reacts differently to similar drug.
Sabhiya Majid, Hilal Ahmad Wani, Iyman Rasool, Muneeb U. Rehman, Muneeb U. Rehman, Azher Arafah, Samia Rashid, Shafat Ali, Shafat Ali, Shabhat Rasool   +9 more
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Single-Nucleotide Polymorphisms

2006
The identification of DNA variation or gene mutations, which contributes to or determines a disease, has been a major research focus, as it describes the underlying inherited disease components. With the human genome being sequenced, the reference sequence is now at hand, facilitating the systematic identification of DNA variation and its subsequent ...
Ulrich Broeckel, Martin J. Hessner
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Single nucleotide polymorphisms in breast cancer

Oncology Reports, 2004
A limited number of genes have been identified that explain heritable risks of breast cancer (BC). We searched for low-penetrant genes in an association study using two populations: 223 Finnish unselected patients and 172 Polish familial cases, both with locally collected healthy controls.
Ewa Grzybowska, Fabiola Festa, Zhenzhong Zhang, Zhenzhong Zhang, Jolanta Pamula, Rajesh Kumar, Rajesh Kumar, Somali Sanyal, Helena Zientek, Sabrina Angelini, Kari Hemminki, Asta Försti, Wioletta Pekala   +12 more
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