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Showing 1 to 12 of 87 entries
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Human Y-chromosome SNP characterization by multiplex amplified product-length polymorphism analysis.

Electrophoresis

Medina LS, Muzzio M, Schwab M, Costantino ML, Barreto G, Bailliet G.
PMID: 24846779
Electrophoresis. 2014 Sep;35(17):2524-7. doi: 10.1002/elps.201400020. Epub 2014 Jul 14.

We designed an allele-specific amplification protocol to optimize Y-chromosome SNP typing, which is an unavoidable step for defining the phylogenetic status of paternal lineages. It allows the simultaneous highly specific definition of up to six mutations in a single...

Spectral karyotyping and SNP microarray analysis define uniparental disomy (UPD) as a novel mutational mechanism in MSI- and CSI-colorectal cancers.

Cellular oncology : the official journal of the International Society for Cellular Oncology

Melcher R, Zopf W, Hartmann E, Rosenwald A, Hoehn H, Schmid M, Kudlich T, Scheurlen M, Luehrs H.
PMID: 18936529
Cell Oncol. 2008;30(6):507. doi: 10.3233/clo-2008-0452.

No abstract available.

The expanding universe of inflammatory bowel disease genetics.

Current opinion in gastroenterology

Achkar JP, Duerr R.
PMID: 18622155
Curr Opin Gastroenterol. 2008 Jul;24(4):429-34. doi: 10.1097/MOG.0b013e3283009c92.

PURPOSE OF REVIEW: Genetic factors play an important role in the pathogenesis of inflammatory bowel disease. In this review, we will provide an update on the rapid advances in the discovery of inflammatory bowel disease, primarily Crohn's disease, associated...

Combined analysis with copy number variation identifies risk loci in lung cancer.

BioMed research international

Li X, Chen X, Hu G, Liu Y, Zhang Z, Wang P, Zhou Y, Yi X, Zhang J, Zhu Y, Wei Z, Yuan F, Zhao G, Zhu J, Hu L, Kong X.
PMID: 25093167
Biomed Res Int. 2014;2014:469103. doi: 10.1155/2014/469103. Epub 2014 Jul 01.

BACKGROUND: Lung cancer is the most important cause of cancer mortality worldwide, but the underlying mechanisms of this disease are not fully understood. Copy number variations (CNVs) are promising genetic variations to study because of their potential effects on...

Large-scale computational identification of regulatory SNPs with rSNP-MAPPER.

BMC genomics

Riva A.
PMID: 22759655
BMC Genomics. 2012 Jun 18;13:S7. doi: 10.1186/1471-2164-13-S4-S7.

BACKGROUND: The computational analysis of regulatory SNPs (rSNPs) is an essential step in the elucidation of the structure and function of regulatory networks at the cellular level. In this work we focus in particular on SNPs that potentially affect...

Gene flow between the Korean peninsula and its neighboring countries.

PloS one

Jung J, Kang H, Cho YS, Oh JH, Ryu MH, Chung HW, Seo JS, Lee JE, Oh B, Bhak J, Kim HL.
PMID: 20686617
PLoS One. 2010 Jul 29;5(7):e11855. doi: 10.1371/journal.pone.0011855.

SNP markers provide the primary data for population structure analysis. In this study, we employed whole-genome autosomal SNPs as a marker set (54,836 SNP markers) and tested their possible effects on genetic ancestry using 320 subjects covering 24 regional...

A systematic review and critical appraisal of gene polymorphism association studies in medication-overuse headache.

Cephalalgia : an international journal of headache

Cargnin S, Viana M, Sances G, Tassorelli C, Terrazzino S.
PMID: 28870085
Cephalalgia. 2018 Jun;38(7):1361-1373. doi: 10.1177/0333102417728244. Epub 2017 Sep 04.

Purpose of review Medication-overuse headache is a secondary chronic headache disorder, evolving from an episodic primary headache type, caused by the frequent and excessive use of headache symptomatic drugs. While gene polymorphisms have been deeply investigated as susceptibility factors...

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.

Behavior genetics

van den Berg SM, de Moor MH, Verweij KJ, Krueger RF, Luciano M, Arias Vasquez A, Matteson LK, Derringer J, Esko T, Amin N, Gordon SD, Hansell NK, Hart AB, Seppälä I, Huffman JE, Konte B, Lahti J, Lee M, Miller M, Nutile T, Tanaka T, Teumer A, Viktorin A, Wedenoja J, Abdellaoui A, Abecasis GR, Adkins DE, Agrawal A, Allik J, Appel K, Bigdeli TB, Busonero F, Campbell H, Costa PT, Smith GD, Davies G, de Wit H, Ding J, Engelhardt BE, Eriksson JG, Fedko IO, Ferrucci L, Franke B, Giegling I, Grucza R, Hartmann AM, Heath AC, Heinonen K, Henders AK, Homuth G, Hottenga JJ, Iacono WG, Janzing J, Jokela M, Karlsson R, Kemp JP, Kirkpatrick MG, Latvala A, Lehtimäki T, Liewald DC, Madden PA, Magri C, Magnusson PK, Marten J, Maschio A, Mbarek H, Medland SE, Mihailov E, Milaneschi Y, Montgomery GW, Nauck M, Nivard MG, Ouwens KG, Palotie A, Pettersson E, Polasek O, Qian Y, Pulkki-Råback L, Raitakari OT, Realo A, Rose RJ, Ruggiero D, Schmidt CO, Slutske WS, Sorice R, Starr JM, St Pourcain B, Sutin AR, Timpson NJ, Trochet H, Vermeulen S, Vuoksimaa E, Widen E, Wouda J, Wright MJ, Zgaga L, Porteous D, Minelli A, Palmer AA, Rujescu D, Ciullo M, Hayward C, Rudan I, Metspalu A, Kaprio J, Deary IJ, Räikkönen K, Wilson JF, Keltikangas-Järvinen L, Bierut LJ, Hettema JM, Grabe HJ, Penninx BW, van Duijn CM, Evans DM, Schlessinger D, Pedersen NL, Terracciano A, McGue M, Martin NG, Boomsma DI.
PMID: 26362575
Behav Genet. 2016 Mar;46(2):170-82. doi: 10.1007/s10519-015-9735-5. Epub 2015 Sep 11.

Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively...

When ".

Cold Spring Harbor molecular case studies

Cassa CA, Akle S, Jordan DM, Rosenfeld JA.
PMID: 28487880
Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001099. doi: 10.1101/mcs.a001099.

The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases ["

GWAS significance thresholds for deep phenotyping studies can depend upon minor allele frequencies and sample size.

Molecular psychiatry

Asif H, Alliey-Rodriguez N, Keedy S, Tamminga CA, Sweeney JA, Pearlson G, Clementz BA, Keshavan MS, Buckley P, Liu C, Neale B, Gershon ES.
PMID: 32066829
Mol Psychiatry. 2021 Jun;26(6):2048-2055. doi: 10.1038/s41380-020-0670-3. Epub 2020 Feb 17.

An important issue affecting genome-wide association studies with deep phenotyping (multiple correlated phenotypes) is determining the suitable family-wise significance threshold. Straightforward family-wise correction (Bonferroni) of p 

Tissue-specific Network Analysis of Genetic Variants Associated with Coronary Artery Disease.

Scientific reports

Miao X, Chen X, Xie Z, Lin H.
PMID: 30065343
Sci Rep. 2018 Jul 31;8(1):11492. doi: 10.1038/s41598-018-29904-7.

Coronary artery disease (CAD) is a leading cause of death worldwide. Recent genome-wide association studies have identified more than one hundred susceptibility loci associated with CAD. However, the underlying mechanism of these genetic loci to CAD susceptibility is still...

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,...

Showing 1 to 12 of 87 entries