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Statistical genetics

This section considers studies describing the development and refinement of statistical methods for the analysis of genetic data and the application of population genetic approaches in relation to human health and disease.

  1. Peri-implantitis is an inflammation that occurs around the implant, resulting in varying degrees of inflammatory damage to the soft and hard tissues. The characteristic criterion is the loss of the supporting ...

    Authors: Yang Li, Jina Zheng, Chanjuan Gong, Kengfu Lan, Yuqing Shen and Xiaojun Ding
    Citation: BMC Medical Genetics 2020 21:208
    Content type: Research article Published on:

  2. This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population.

    Authors: Hui Yang, Xindie Zhou, Dongmei Xu and Gang Chen
    Citation: BMC Medical Genetics 2020 21:199
    Content type: Research article Published on:

  3. Current sequencing technologies have provided for a more comprehensive genome-wide assessment and have increased genotyping accuracy of rare variants. Scan statistic approaches have previously been adapted to ...

    Authors: Yuriko Katsumata and David W. Fardo
    Citation: BMC Medical Genetics 2020 21:106
    Content type: Software Published on:

  4. Previous studies found that Ser9Gly (rs6280) might be involved in the occurrence of schizophrenia. However, no consist conclusion has yet been achieved. Compared to the case-control study, the family-based stu...

    Authors: Xiao-na Li, Ji-long Zheng, Xiao-han Wei, Bao-jie Wang and Jun Yao
    Citation: BMC Medical Genetics 2020 21:85
    Content type: Research article Published on:

  5. Ischemic Stroke (IS) is the most common neurological emergency disease and has become the second most frequent cause of death after coronary artery disease in 2015. Owing to its high fatality rate and narrow t...

    Authors: Qizhi Xie, Xiaoyun Zhang, Sijia Peng, Jingjing Sun, Xiao Chen, Yuanfei Deng and Li Yi
    Citation: BMC Medical Genetics 2020 21:66
    Content type: Research article Published on:

  6. Sarcopenia is a skeletal muscle disease of clinical importance that occurs commonly in old age and in various disease sub-categories. Widening the scope of knowledge of the genetics of muscle mass and strength...

    Authors: Abhishek Narain Singh and Bili Gasman
    Citation: BMC Medical Genetics 2020 21:40
    Content type: Research article Published on:

  7. Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. T...

    Authors: Dan-Dan Wang, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Ping Xu and Ji-Hong Wu
    Citation: BMC Medical Genetics 2020 21:27
    Content type: Review Published on:

  8. Lung cancer is a leading cause of death from cancer worldwide, especially non-small cell lung cancer (NSCLC). The marker of progression in lung adenocarcinoma, the main type of NSCLC, has been rarely studied. ...

    Authors: Kun Huang, Erqiang Hu, Wan Li, Junjie Lv, Yuehan He, Gui Deng, Jinling Xiao, Chengcheng Yang, Xinyu Zhao, Lina Chen and Xinyan Wang
    Citation: BMC Medical Genetics 2019 20:177
    Content type: Research article Published on:

  9. Cancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through t...

    Authors: Xin Shao, Ning Lv, Jie Liao, Jinbo Long, Rui Xue, Ni Ai, Donghang Xu and Xiaohui Fan
    Citation: BMC Medical Genetics 2019 20:175
    Content type: Research article Published on:

  10. Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children, and there are no effective therapies for DMD or Becker Muscular Dystrophy (BMD). Currently, targeted gene therapy treatments hav...

    Authors: Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang and Lingrong Kong
    Citation: BMC Medical Genetics 2019 20:139
    Content type: Research article Published on:

  11. Increasingly, molecular measurements from multiple studies are pooled to identify risk scores, with only partial overlap of measurements available from different studies. Univariate analyses of such markers ha...

    Authors: Anne-Sophie Stelzer, Livia Maccioni, Aslihan Gerhold-Ay, Karin E. Smedby, Martin Schumacher, Alexandra Nieters and Harald Binder
    Citation: BMC Medical Genetics 2019 20:128
    Content type: Technical advance Published on:

  13. Rs189037 (G > A) is a functional single nucleotide polymorphism (SNP) in the Ataxia-telangiectasia mutated (ATM) gene that may be associated with the risk of cancer. We performed a meta-analysis to determine w...

    Authors: Zhi-liang Zhao, Lu Xia, Cong Zhao and Jun Yao
    Citation: BMC Medical Genetics 2019 20:28
    Content type: Research article Published on:

  14. Imputation involves the inference of untyped single nucleotide polymorphisms (SNPs) in genome-wide association studies. The haplotypic reference of choice for imputation in Southeast Asian populations is uncle...

    Authors: Worachart Lert-itthiporn, Bhoom Suktitipat, Harald Grove, Anavaj Sakuntabhai, Prida Malasit, Nattaya Tangthawornchaikul, Fumihiko Matsuda and Prapat Suriyaphol
    Citation: BMC Medical Genetics 2018 19:23
    Content type: Research article Published on:

  16. Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and neurophysiological data gathered under ideal conditions for clinical assessment....

    Authors: Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein I Mellgren and Øivind Nilssen
    Citation: BMC Medical Genetics 2013 14:94
    Content type: Research article Published on:

  17. It is commonly recognized that physical activity has familial aggregation; however, the genetic influences on physical activity phenotypes are not well characterized. This study aimed to (1) estimate the herit...

    Authors: Andréa RVR Horimoto, Suely R Giolo, Camila M Oliveira, Rafael O Alvim, Júlia P Soler, Mariza de Andrade, José E Krieger and Alexandre C Pereira
    Citation: BMC Medical Genetics 2011 12:155
    Content type: Research article Published on:

  18. Elevated levels of factor VIII (FVIII) and von Willebrand Factor (vWF) are well-established risk factors for cardiovascular diseases, in particular venous thrombosis. Although high, the heritability of these t...

    Authors: Guillemette Antoni, Tiphaine Oudot-Mellakh, Apostolos Dimitromanolakis, Marine Germain, William Cohen, Philip Wells, Mark Lathrop, France Gagnon, Pierre-Emmanuel Morange and David-Alexandre Tregouet
    Citation: BMC Medical Genetics 2011 12:102
    Content type: Research article Published on:

  19. One of the challenges in the interpretation of studies showing associations between environmental and genotypic data with disease outcomes such as neovascular age-related macular degeneration (AMD) is understa...

    Authors: Michael Feehan, John Hartman, Richard Durante, Margaux A Morrison, Joan W Miller, Ivana K Kim and Margaret M DeAngelis
    Citation: BMC Medical Genetics 2011 12:83
    Content type: Research article Published on:

  20. Observational studies and randomized trials have suggested that estrogens and/or progesterone may lower the risk for colorectal cancer. Inherited variation in the sex-hormone genes may be one mechanism by whic...

    Authors: Jennifer H Lin, JoAnn E Manson, Peter Kraft, Barbara B Cochrane, Marc J Gunter, Rowan T Chlebowski and Shumin M Zhang
    Citation: BMC Medical Genetics 2011 12:78
    Content type: Research article Published on:

  21. Case-control studies typically exclude fatal endpoints from the case set, which we hypothesize will substantially underestimate risk if survival is genotype-dependent. The loss of fatal cases is particularly n...

    Authors: Paul Williams, Lakshmana Pendyala and Robert Superko
    Citation: BMC Medical Genetics 2011 12:42
    Content type: Research article Published on:

  22. Accurate genetic maps are required for successful and efficient linkage mapping of disease genes. However, most available genome-wide genetic maps were built using only small collections of pedigrees, and ther...

    Authors: Chunsheng He, Daniel E Weeks, Steven Buyske, Goncalo R Abecasis, William C Stewart and Tara C Matise
    Citation: BMC Medical Genetics 2011 12:15
    Content type: Research article Published on:

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