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Showing 13 to 24 of 186 entries
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An optimum projection and noise reduction approach for detecting rare and common variants associated with complex diseases.

Human heredity

Turkmen A, Lin S.
PMID: 23154579
Hum Hered. 2012;74(1):51-60. doi: 10.1159/000343797. Epub 2012 Nov 13.

BACKGROUND: Despite the thrilling advances in identifying gene variants that influence common diseases, most of the heritable risk for many common diseases still remains unidentified. One of the possible reasons for this missing heritability is that the genome-wide association...

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.

Nucleic acids research

Buniello A, MacArthur JAL, Cerezo M, Harris LW, Hayhurst J, Malangone C, McMahon A, Morales J, Mountjoy E, Sollis E, Suveges D, Vrousgou O, Whetzel PL, Amode R, Guillen JA, Riat HS, Trevanion SJ, Hall P, Junkins H, Flicek P, Burdett T, Hindorff LA, Cunningham F, Parkinson H.
PMID: 30445434
Nucleic Acids Res. 2019 Jan 08;47:D1005-D1012. doi: 10.1093/nar/gky1120.

The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted...

Systematics for types and effects of DNA variations.

BMC genomics

Vihinen M.
PMID: 30591019
BMC Genomics. 2018 Dec 28;19(1):974. doi: 10.1186/s12864-018-5262-0.

BACKGROUND: Numerous different types of variations can occur in DNA and have diverse effects and consequences. The Variation Ontology (VariO) was developed for systematic descriptions of variations and their effects at DNA, RNA and protein levels.RESULTS: VariO use and...

Beyond Mendelian randomization: how to interpret evidence of shared genetic predictors.

Journal of clinical epidemiology

Burgess S, Butterworth AS, Thompson JR.
PMID: 26291580
J Clin Epidemiol. 2016 Jan;69:208-16. doi: 10.1016/j.jclinepi.2015.08.001. Epub 2015 Aug 18.

OBJECTIVE: Mendelian randomization is a popular technique for assessing and estimating the causal effects of risk factors. If genetic variants which are instrumental variables for a risk factor are shown to be additionally associated with a disease outcome, then...

Genetic variation, phenotypic stability, and repeatability of drought response in European larch throughout 50 years in a common garden experiment.

Tree physiology

George JP, Grabner M, Karanitsch-Ackerl S, Mayer K, Weißenbacher L, Schueler S, Mäkelä A.
PMID: 28173601
Tree Physiol. 2017 Jan 31;37(1):33-46. doi: 10.1093/treephys/tpw085.

Assessing intra-specific variation in drought stress response is required to mitigate the consequences of climate change on forest ecosystems. Previous studies suggest that European larch (Larix decidua Mill.), an important European conifer in mountainous and alpine forests, is highly...

Finding invisible quantitative trait loci with missing data.

Plant biotechnology journal

Gabur I, Chawla HS, Liu X, Kumar V, Faure S, von Tiedemann A, Jestin C, Dryzska E, Volkmann S, Breuer F, Delourme R, Snowdon R, Obermeier C.
PMID: 29729219
Plant Biotechnol J. 2018 Dec;16(12):2102-2112. doi: 10.1111/pbi.12942. Epub 2018 May 28.

Evolutionary processes during plant polyploidization and speciation have led to extensive presence-absence variation (PAV) in crop genomes, and there is increasing evidence that PAV associates with important traits. Today, high-resolution genetic analysis in major crops frequently implements simple, cost-effective,...

Special Issue on Agricultural Genebanks.

Biopreservation and biobanking

Popova E.
PMID: 30325670
Biopreserv Biobank. 2018 Oct;16(5):325-326. doi: 10.1089/bio.2018.29044.ejp.

No abstract available.

The internationalization of human microbiome research.

Current opinion in microbiology

Porras AM, Brito IL.
PMID: 31683111
Curr Opin Microbiol. 2019 Aug;50:50-55. doi: 10.1016/j.mib.2019.09.012. Epub 2019 Nov 02.

The human microbiome has now been linked with myriad diseases, yet most of this research has been conducted on American and European populations that make up only 1/6th of the world's population. With growing recognition that human microbiomes differ...

Integrating genetic and non-genetic determinants of cancer evolution by single-cell multi-omics.

Nature reviews. Genetics

Nam AS, Chaligne R, Landau DA.
PMID: 32807900
Nat Rev Genet. 2021 Jan;22(1):3-18. doi: 10.1038/s41576-020-0265-5. Epub 2020 Aug 17.

Cancer represents an evolutionary process through which growing malignant populations genetically diversify, leading to tumour progression, relapse and resistance to therapy. In addition to genetic diversity, the cell-to-cell variation that fuels evolutionary selection also manifests in cellular states, epigenetic...

Mendelian Randomization Analysis as a Tool to Gain Insights into Causes of Diseases: A Primer.

Journal of the American Society of Nephrology : JASN

Tin A, Köttgen A.
PMID: 34135084
J Am Soc Nephrol. 2021 Oct;32(10):2400-2407. doi: 10.1681/ASN.2020121760. Epub 2021 Jun 16.

Many Mendelian randomization (MR) studies have been published recently, with inferences on the causal relationships between risk factors and diseases that have potential implications for clinical research. In nephrology, MR methods have been applied to investigate potential causal relationships...

A deeper look at tumor heterogeneity.

Cancer discovery

Leslie M.
PMID: 22886648
Cancer Discov. 2012 Aug;2(8):660. doi: 10.1158/2159-8290.CD-ND2012-027. Epub 2012 Jun 28.

No abstract available.

How is adaptive potential distributed within species ranges?.

Evolution; international journal of organic evolution

Pennington LK, Slatyer RA, Ruiz-Ramos DV, Veloz SD, Sexton JP.
PMID: 34164814
Evolution. 2021 Sep;75(9):2152-2166. doi: 10.1111/evo.14292. Epub 2021 Jul 08.

Quantitative genetic variation (QGV) represents a major component of adaptive potential and, if reduced toward range-edge populations, could prevent a species' expansion or adaptive response to rapid ecological change. It has been hypothesized that QGV will be lower at...

Showing 13 to 24 of 186 entries