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Showing 181 to 186 of 186 entries
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Genetic Variation and the Electrocardiograph: From Genome-Wide Association Studies to the Patient.

Circulation. Genomic and precision medicine

Hedley PL, Hagen CM, Christiansen M.
PMID: 29748319
Circ Genom Precis Med. 2018 May;11(5):e002164. doi: 10.1161/CIRCGEN.118.002164.

No abstract available.

GPS for navigating healthcare.

Nature genetics

[No authors listed]
PMID: 30158687
Nat Genet. 2018 Sep;50(9):1197. doi: 10.1038/s41588-018-0230-9.

No abstract available.

The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Schuch JB, Paixão-Côrtes VR, Friedrich DC, Tovo-Rodrigues L.
PMID: 26892727
Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171(3):479-91. doi: 10.1002/ajmg.b.32431. Epub 2016 Feb 19.

Several autism spectrum disorders (ASD) exome studies suggest that coding single nucleotide variants (SNVs) play an important role on ASD etiology. Usually, the pathogenic effect of missense mutations is estimated through predictors that lose accuracy for those SNVs placed...

Genetic diversity of native and cultivated Ugandan Robusta coffee (Coffea canephora Pierre ex A. Froehner): Climate influences, breeding potential and diversity conservation.

PloS one

Kiwuka C, Goudsmit E, Tournebize R, de Aquino SO, Douma JC, Bellanger L, Crouzillat D, Stoffelen P, Sumirat U, Legnaté H, Marraccini P, de Kochko A, Andrade AC, Mulumba JW, Musoli P, Anten NPR, Poncet V.
PMID: 33556074
PLoS One. 2021 Feb 08;16(2):e0245965. doi: 10.1371/journal.pone.0245965. eCollection 2021.

Wild genetic resources and their ability to adapt to environmental change are critically important in light of the projected climate change, while constituting the foundation of agricultural sustainability. To address the expected negative effects of climate change on Robusta...

Genetic risk prediction--are we there yet?.

The New England journal of medicine

Kraft P, Hunter DJ.
PMID: 19369656
N Engl J Med. 2009 Apr 23;360(17):1701-3. doi: 10.1056/NEJMp0810107. Epub 2009 Apr 15.

No abstract available.

VPMBench: a test bench for variant prioritization methods.

BMC bioinformatics

Ruscheinski A, Reimler AL, Ewald R, Uhrmacher AM.
PMID: 34749640
BMC Bioinformatics. 2021 Nov 08;22(1):543. doi: 10.1186/s12859-021-04458-0.

BACKGROUND: Clinical diagnostics of whole-exome and whole-genome sequencing data requires geneticists to consider thousands of genetic variants for each patient. Various variant prioritization methods have been developed over the last years to aid clinicians in identifying variants that are...

Showing 181 to 186 of 186 entries