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Showing 1 to 12 of 186 entries
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[Genetic diversity and genetic differentiation of Rhododendron concinnum wild populations in Qinling Mountains of Northwest China: an AFLP analysis].

Ying yong sheng tai xue bao = The journal of applied ecology

Zhao B, Xu M, Si GC, Li HH, Zhang YL.
PMID: 23431779
Ying Yong Sheng Tai Xue Bao. 2012 Nov;23(11):2983-90.

By using amplified fragment length polymorphism (AFLP) technique, an investigation was made on the genetic diversity and genetic differentiation of seven wild populations of Rhododendron concinnum in Qinling Mountains of Northwest China. A total of 182 amplification products were...

[Recent progress in the study of genetic variants associated with liver diseases].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology

Chayama K, Ochi H, Miki D.
PMID: 24005097
Nihon Shokakibyo Gakkai Zasshi. 2013 Sep;110(9):1577-90.

No abstract available.

Synthetic biology of metabolism: using natural variation to reverse engineer systems.

Current opinion in plant biology

Kliebenstein DJ.
PMID: 24699221
Curr Opin Plant Biol. 2014 Jun;19:20-6. doi: 10.1016/j.pbi.2014.03.008. Epub 2014 Apr 01.

A goal of metabolic engineering is to take a plant and introduce new or modify existing pathways in a directed and predictable fashion. However, existing data does not provide the necessary level of information to allow for predictive models...

Variants from the deep.

Nature methods

Nawy T.
PMID: 30377361
Nat Methods. 2018 Nov;15(11):861. doi: 10.1038/s41592-018-0209-6.

No abstract available.

Genetic Risk Stratification and Prevention of CAD: An Idea Whose Time Is Now.

Clinical chemistry

Roberts R.
PMID: 28931517
Clin Chem. 2017 Dec;63(12):1821-1823. doi: 10.1373/clinchem.2017.278895. Epub 2017 Sep 20.

No abstract available.

Human disease genomics: from variants to biology.

Genome biology

McCarthy MI, MacArthur DG.
PMID: 28137298
Genome Biol. 2017 Jan 30;18(1):20. doi: 10.1186/s13059-017-1160-z.

We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease.

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.

Nature genetics

Griffith M, Spies NC, Krysiak K, McMichael JF, Coffman AC, Danos AM, Ainscough BJ, Ramirez CA, Rieke DT, Kujan L, Barnell EK, Wagner AH, Skidmore ZL, Wollam A, Liu CJ, Jones MR, Bilski RL, Lesurf R, Feng YY, Shah NM, Bonakdar M, Trani L, Matlock M, Ramu A, Campbell KM, Spies GC, Graubert AP, Gangavarapu K, Eldred JM, Larson DE, Walker JR, Good BM, Wu C, Su AI, Dienstmann R, Margolin AA, Tamborero D, Lopez-Bigas N, Jones SJ, Bose R, Spencer DH, Wartman LD, Wilson RK, Mardis ER, Griffith OL.
PMID: 28138153
Nat Genet. 2017 Jan 31;49(2):170-174. doi: 10.1038/ng.3774.

No abstract available.

Effective discovery of rare variants by pooled target capture sequencing: A comparative analysis with individually indexed target capture sequencing.

Mutation research

Ryu S, Han J, Norden-Krichmar TM, Schork NJ, Suh Y.
PMID: 29677560
Mutat Res. 2018 May;809:24-31. doi: 10.1016/j.mrfmmm.2018.03.007. Epub 2018 Mar 30.

Identification of all genetic variants associated with complex traits is one of the most important goals in modern human genetics. Genome-wide association studies (GWAS) have been successfully applied to identify common variants, which thus far explain only small portion...

Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.

Rheumatology (Oxford, England)

Nakaseko H, Iwata N, Izawa K, Shibata H, Yasuoka R, Kohagura T, Abe N, Kawabe S, Nishikomori R.
PMID: 30203097
Rheumatology (Oxford). 2019 Jan 01;58(1):182-184. doi: 10.1093/rheumatology/key283.

No abstract available.

Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

Journal of the National Cancer Institute

Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
PMID: 29618041
J Natl Cancer Inst. 2018 Oct 01;110(10):1059-1066. doi: 10.1093/jnci/djy027.

BACKGROUND: In germline genetic testing, variants from understudied ancestries have been disproportionately classified as being of uncertain significance. We hypothesized that the rate of variant reclassification likewise differs by ancestry.METHODS: Nonbenign variants in actionable genes were collected from consenting...

The "jack-in-the-box" stamens of Heliconia wagneriana (Heliconiaceae).

Ecology

Gannon DG, Kormann UG, Hadley AS, Betts MG, Jones FA.
PMID: 29205316
Ecology. 2018 Feb;99(2):488-490. doi: 10.1002/ecy.2042. Epub 2017 Dec 04.

No abstract available.

DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts.

Bioinformatics (Oxford, England)

Cheng WY, Hakenberg J, Li SD, Chen R.
PMID: 26363178
Bioinformatics. 2016 Jan 01;32(1):151-3. doi: 10.1093/bioinformatics/btv511. Epub 2015 Sep 12.

MOTIVATION: A plethora of sequenced and genotyped disease cohorts is available to the biomedical research community, spread across many portals and represented in various formats.RESULTS: We have gathered several large studies, including GERA and GRU, and computed population- and...

Showing 1 to 12 of 186 entries