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Genomic epidemiology

This section considers studies of the association of genetic factors or variations in the human genome with human health and disease, their prevalence within families and populations, their interactions with environmental factors, and their contribution to disease risk.

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  1. Associations have been observed among genetic variants, dietary patterns, and metabolic syndrome (MetS). A gap in knowledge is whether a genetic risk score (GRS) and dietary patterns interact to increase MetS ...

    Authors: Dale S. Hardy, Susan B. Racette, Jane T. Garvin, Hirut T. Gebrekristos and Tesfaye B. Mersha

    Citation: BMC Medical Genomics 2021 14:118

    Content type: Research article

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  2. Studies on the XRCC3 rs1799794 polymorphism show that this polymorphism is involved in a variety of cancers, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was ...

    Authors: Weiqing Liu, Shumin Ma, Lei Liang, Zhiyong Kou, Hongbin Zhang and Jun Yang

    Citation: BMC Medical Genomics 2021 14:117

    Content type: Research article

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  3. Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a rare autosomal recessive genetic condition caused by deleterious mutations in the LAMA2 gene encoding the laminin-α2 chain. It is the most freq...

    Authors: Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani and Jaber Lyahyai

    Citation: BMC Medical Genomics 2021 14:113

    Content type: Case report

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  4. Pancreatic adenocarcinoma (PA) is a very aggressive cancer and has one of the poorest prognoses. Usually, the diagnosis is late and resistant to conventional treatment. Environmental and genetic factors contri...

    Authors: Mateus Nóbrega Aoki, Angelika Stein, Jaqueline Carvalho de Oliveira, Roger Chammas, Miyuki Uno, Francielle Boçon de Araújo Munhoz, Anelis Maria Marin and Federico Canzian

    Citation: BMC Medical Genomics 2021 14:111

    Content type: Research article

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  5. Potocki–Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a s...

    Authors: Xuejiao Chen, Huihui Xu, Weiwu Shi, Feng Wang, Fenfen Xu, Yang Zhang, Jun Gan, Xiong Tian, Baojun Chen and Meizhen Dai

    Citation: BMC Medical Genomics 2021 14:99

    Content type: Research article

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  6. Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurod...

    Authors: Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano and Antonina Fontana

    Citation: BMC Medical Genomics 2021 14:98

    Content type: Case report

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  7. α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-glo...

    Authors: Xi Luo, Xiang-mei Zhang, Liu-song Wu, Jindong Chen and Yan Chen

    Citation: BMC Medical Genomics 2021 14:97

    Content type: Research article

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  8. Molecular autopsy represents an efficient tool to save the diagnosis in up to one-third of sudden unexplained death (SUD). A defined gene panel is usually used for the examination. Alternatively, it is possibl...

    Authors: Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder and Isabel Diebold

    Citation: BMC Medical Genomics 2021 14:94

    Content type: Technical advance

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  9. Coronary Artery Disease (CAD) is the narrowing or blockage of the coronary arteries. It is closely associated with numerous genetics and environmental factors that have been extensively evaluated in various po...

    Authors: Victor Wakim, Elie Abi Khalil, Angelique K. Salloum, Georges Khazen, Michella Ghassibe-Sabbagh and Pierre A. Zalloua

    Citation: BMC Medical Genomics 2021 14:90

    Content type: Research article

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  10. The prevalence of open-angle glaucoma (OAG) varies from 0.5% to 7.0% among populations of diverse ancestry, suggesting the existence of genetic differences. The purposes of this study were to provide insights ...

    Authors: Hyun-Tae Shin, Byung Woo Yoon and Je Hyun Seo

    Citation: BMC Medical Genomics 2021 14:80

    Content type: Research article

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  12. Hypertension is a complex disorder affected by gene-environment interactions. Methylenetetrahydrofolate reductase (MTHFR) gene is one of the genes in One Carbon Metabolic (OCM) pathway that affects both blood pre...

    Authors: Suniti Yadav, Imnameren Longkumer, Shipra Joshi and Kallur Nava Saraswathy

    Citation: BMC Medical Genomics 2021 14:59

    Content type: Research article

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  14. Colon cancer (CC) is one of the most common malignant tumors, while Parkinson’s disease (PD) is the second most common neurodegenerative disorder. Recent accumulating evidence indicates that these two diseases...

    Authors: Suyan Tian, Mingyue Zhang and Zhiming Ma

    Citation: BMC Medical Genomics 2021 14:36

    Content type: Research article

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  15. Genetic factors play an important role in susceptibility to methamphetamine dependency. In this line, protein that interact with C-kinase-1 (PICK1) and brain-derived neurotrophic factor (BDNF) genes are linked to...

    Authors: Amir Tajbakhsh, Maliheh Alimardani, Mahla Asghari, Soheila Abedini, Sohrab Saghafi Khadem, Abolfazl Nesaei Bajestani, Forough Alipoor, Maryam Alidoust, Amir Savardashtaki, Peyman Hashemian and Alireza Pasdar

    Citation: BMC Medical Genomics 2021 14:27

    Content type: Research article

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  16. Type 2 diabetes complications cause a serious emotional and economical burden to patients and healthcare systems globally. Management of both acute and chronic complications of diabetes, which dramatically imp...

    Authors: Monta Ustinova, Raitis Peculis, Raimonds Rescenko, Vita Rovite, Linda Zaharenko, Ilze Elbere, Laila Silamikele, Ilze Konrade, Jelizaveta Sokolovska, Valdis Pirags and Janis Klovins

    Citation: BMC Medical Genomics 2021 14:18

    Content type: Research article

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  17. Tandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict which tandem repeats may cause a disease. One hypothesis is that chan...

    Authors: Satomi Mitsuhashi, Martin C. Frith and Naomichi Matsumoto

    Citation: BMC Medical Genomics 2021 14:17

    Content type: Research article

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  18. The opioid use disorder and overdose crisis in the United States affects public health as well as social and economic welfare. While several genetic and non-genetic risk factors for opioid use disorder have be...

    Authors: Jessica Heil, Stefan Zajic, Emily Albertson, Andrew Brangan, Iris Jones, Wendy Roberts, Michael Sabia, Elliot Bodofsky, Alissa Resch, Rachel Rafeq, Rachel Haroz, Russell Buono, Thomas N. Ferraro, Laura Scheinfeldt, Matthew Salzman and Kaitlan Baston

    Citation: BMC Medical Genomics 2021 14:16

    Content type: Study protocol

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  19. DNA methylation of Cadherin 13 (CDH13), a tumor suppressor gene is associated with gene repression and carcinogenesis. We determined the relation of dietary fat and sex with CDH13 cg02263260 methylation in Tai...

    Authors: Bei-Hao Shiu, Wen-Yu Lu, Disline Manli Tantoh, Ming-Chih Chou, Oswald Ndi Nfor, Chi-Chou Huang and Yung-Po Liaw

    Citation: BMC Medical Genomics 2021 14:13

    Content type: Research article

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  20. Elevated triglycerides (TG) are associated with, and may be causal for, cardiovascular disease (CVD), and co-morbidities such as type II diabetes and metabolic syndrome. Pathogenic variants in APOA5 and APOC3 as ...

    Authors: Elisabeth A. Rosenthal, David R. Crosslin, Adam S. Gordon, David S. Carrell, Ian B. Stanaway, Eric B. Larson, Jane Grafton, Wei-Qi Wei, Joshua C. Denny, Qi-Ping Feng, Amy S. Shah, Amy C. Sturm, Marylyn D. Ritchie, Jennifer A. Pacheco, Hakon Hakonarson, Laura J. Rasmussen-Torvik…

    Citation: BMC Medical Genomics 2021 14:11

    Content type: Research article

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  21. This study is to explore the relationship between the ZBRK1/ZNF350 (Zinc finger and BRCA1-interacting protein with KRAB domain-1; also known as zinc-finger protein 350) gene polymorphism and early-onset breast ca...

    Authors: Jun Wu, Alibiati Eni, Eliar Roussuri and Binlin Ma

    Citation: BMC Medical Genomics 2021 14:7

    Content type: Research article

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  22. Preeclampsia (PE) is a pregnancy-related condition that affects both the infant and the mother. Although the role of various inflammatory molecules in PE has been demonstrated, the importance of pro-inflammato...

    Authors: Xiao Lang, Wei Liu, Yanyan Hou, Wenxia Zhao, Xingyu Yang, Lan Chen, Qi Yan and Weiwei Cheng

    Citation: BMC Medical Genomics 2021 14:5

    Content type: Research article

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  23. In order to explore the pathophysiology underlying type 2 diabetes we examined the impact of gene variants associated with type 2 diabetes on circulating levels of glucagon during an oral glucose tolerance tes...

    Authors: Anna Jonsson, Sara E. Stinson, Signe S. Torekov, Tine D. Clausen, Kristine Færch, Louise Kelstrup, Niels Grarup, Elisabeth R. Mathiesen, Peter Damm, Daniel R. Witte, Marit E. Jørgensen, Oluf Pedersen, Jens Juul Holst and Torben Hansen

    Citation: BMC Medical Genomics 2021 14:3

    Content type: Research article

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  24. We aimed to examine the role of the rs6060566 polymorphism of the reactive oxygen species modulator 1 (ROMO1) gene in the development of myocardial infarction (MI) in Caucasians with type 2 diabetes (T2DM).

    Authors: Miha Tibaut, Sara Mankoč Ramuš and Daniel Petrovič

    Citation: BMC Medical Genomics 2020 13:184

    Content type: Research article

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  25. Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, developmental dela...

    Authors: Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong and Yiping Shen

    Citation: BMC Medical Genomics 2020 13:181

    Content type: Research article

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  26. Hypoxia and stemness are important factors in tumor progression. We aimed to explore the ncRNA classifier associated with hypoxia and stemness in lung adenocarcinoma (LUAD). We found that the prognosis of LUAD...

    Authors: Lili Guo, Hongxia Li, Weiying Li and Junfang Tang

    Citation: BMC Medical Genomics 2020 13:166

    Content type: Research article

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  27. Adrenocortical carcinoma (ACC) is a rare, often-aggressive neoplasm of the adrenal cortex, with a 14–17 month median overall survival. We asked whether tumors from patients with advanced or metastatic ACC woul...

    Authors: Tito Fojo, Lyn Huff, Thomas Litman, Kate Im, Maureen Edgerly, Jaydira del Rivero, Stefania Pittaluga, Maria Merino, Susan E. Bates and Michael Dean

    Citation: BMC Medical Genomics 2020 13:165

    Content type: Research article

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  28. Polygenic scores are a strategy to aggregate the small, additive effects of single nucleotide polymorphisms across the genome. With phenotypes like Alzheimer’s disease, which have a strong and well-established...

    Authors: Erin B. Ware, Jessica D. Faul, Colter M. Mitchell and Kelly M. Bakulski

    Citation: BMC Medical Genomics 2020 13:164

    Content type: Research article

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  29. Genome-wide association studies (GWAS) have proven successful in predicting genetic risk of disease using single-locus models; however, identifying single nucleotide polymorphism (SNP) interactions at the geno...

    Authors: Jennifer Luyapan, Xuemei Ji, Siting Li, Xiangjun Xiao, Dakai Zhu, Eric J. Duell, David C. Christiani, Matthew B. Schabath, Susanne M. Arnold, Shanbeh Zienolddiny, Hans Brunnström, Olle Melander, Mark D. Thornquist, Todd A. MacKenzie, Christopher I. Amos and Jiang Gui

    Citation: BMC Medical Genomics 2020 13:162

    Content type: Technical advance

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  30. The present study aims to investigate the complete long non-coding RNA (lncRNA) and messenger RNA (mRNA) expression profiles in Intracranial aneurysm (IA) patients and controls by RNA sequencing, which reveals...

    Authors: Yi Sun, Yeying Wen, Qishuang Ruan, Le Yang, Shuna Huang, Xingyan Xu, Yingying Cai, Huangyuan Li and Siying Wu

    Citation: BMC Medical Genomics 2020 13:147

    Content type: Research article

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  31. Hypertension is a major modifiable risk factor for arteriosclerosis that can lead to target organ damage (TOD) of heart, kidneys, and peripheral arteries. A recent epigenome-wide association study for blood pr...

    Authors: Minjung Kho, Wei Zhao, Scott M. Ratliff, Farah Ammous, Thomas H. Mosley, Lulu Shang, Sharon L. R. Kardia, Xiang Zhou and Jennifer A. Smith

    Citation: BMC Medical Genomics 2020 13:131

    Content type: Research article

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  32. Childhood-onset asthma is highly affected by genetic components. In recent years, many genome-wide association studies (GWAS) have reported a large group of genetic variants and susceptible genes associated wi...

    Authors: Xiuqing Ma, Peilan Wang, Guobing Xu, Fang Yu and Yunlong Ma

    Citation: BMC Medical Genomics 2020 13:123

    Content type: Research article

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  33. Whether high blood pressure has a causal effect on cognitive function as early as middle age is unclear. We investigated whether high blood pressure (BP) causally impairs cognitive function at midlife using Me...

    Authors: Daokun Sun, Emy A. Thomas, Lenore J. Launer, Stephen Sidney, Kristine Yaffe and Myriam Fornage

    Citation: BMC Medical Genomics 2020 13:121

    Content type: Research article

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  34. Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture...

    Authors: Thomas W. Winkler, Felix Grassmann, Caroline Brandl, Christina Kiel, Felix Günther, Tobias Strunz, Lorraine Weidner, Martina E. Zimmermann, Christina A. Korb, Alicia Poplawski, Alexander K. Schuster, Martina Müller-Nurasyid, Annette Peters, Franziska G. Rauscher, Tobias Elze, Katrin Horn…

    Citation: BMC Medical Genomics 2020 13:120

    Content type: Research article

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  36. Pan-cancer studies of somatic copy number alterations (SCNAs) have demonstrated common SCNA patterns across cancer types, but despite demonstrable differences in aggressiveness of some cancers by race, pan-can...

    Authors: Yalei Chen, Sudha M. Sadasivan, Ruicong She, Indrani Datta, Kanika Taneja, Dhananjay Chitale, Nilesh Gupta, Melissa B. Davis, Lisa A. Newman, Craig G. Rogers, Pamela L. Paris, Jia Li, Benjamin A. Rybicki and Albert M. Levin

    Citation: BMC Medical Genomics 2020 13:116

    Content type: Research article

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  37. Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes. Understanding the genetic factors influencing e...

    Authors: Olivia J. Veatch, Christopher R. Bauer, Brendan T. Keenan, Navya S. Josyula, Diego R. Mazzotti, Kanika Bagai, Beth A. Malow, Janet D. Robishaw, Allan I. Pack and Sarah A. Pendergrass

    Citation: BMC Medical Genomics 2020 13:105

    Content type: Research article

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  38. Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Fi...

    Authors: Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer…

    Citation: BMC Medical Genomics 2020 13:103

    Content type: Research article

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  39. BMI is a strong indicator of complications from type I diabetes, especially under intensive treatment.

    Authors: Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Przemysław Kapusta, Ewelina Pitera, Samuel K. Handelman, Urszula Mantaj, Katarzyna Cyganek, Paweł Gutaj, Łucja Dobrucka, Ewa Wender-Ożegowska, Maciej T. Małecki and Paweł P. Wołkow

    Citation: BMC Medical Genomics 2020 13:97

    Content type: Research article

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  40. Age-related macular degeneration (AMD) is a progressive retinal disease contributing to blindness worldwide. Multiple estimates for AMD heritability (h2) exist; however, a substantial proportion of h2 is not attr...

    Authors: Andrea R. Waksmunski, Michelle Grunin, Tyler G. Kinzy, Robert P. Igo Jr, Jonathan L. Haines and Jessica N. Cooke Bailey

    Citation: BMC Medical Genomics 2020 13:95

    Content type: Research article

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  41. Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ...

    Authors: Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu and Haiming Yuan

    Citation: BMC Medical Genomics 2020 13:66

    Content type: Case report

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  43. Obesity is common among kidney transplant recipients; However biological mediators of obesity are not well understood in this population. Because subcutaneous adipose tissue can be easily obtained during kidne...

    Authors: Rosario B. Jaime-Lara, Abhrarup Roy, Yupeng Wang, Ansley Stanfill, Ann K. Cashion and Paule V. Joseph

    Citation: BMC Medical Genomics 2020 13:37

    Content type: Research article

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  44. Multifocal lung cancers (MLCs) are common in patients newly diagnosed with lung cancer, and histological results of most synchronous MLCs are similar. Few cases with different histology findings have been repo...

    Authors: Licheng Wu, Poming Kang, Shaolin Tao, Zhikun Zhao, Longyun Chen, Yajie Xiao and Qunyou Tan

    Citation: BMC Medical Genomics 2020 13:15

    Content type: Case report

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  45. Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide, especially in East Asia. Even with the progress in therapy, 5-year survival rates remain unsatisfied. Chronic infection with the hepa...

    Authors: Suofeng Sun, Yuan Li, Shuangyin Han, Hongtao Jia, Xiuling Li and Xiaofang Li

    Citation: BMC Medical Genomics 2019 12:147

    Content type: Research article

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  46. Systemic sclerosis (SSc) is a rare autoimmune connective tissue disease whose pathogenesis remains incompletely understood. Increasing evidence suggests that both genetic susceptibilities and changes in DNA me...

    Authors: Tianyuan Lu, Kathleen Oros Klein, Inés Colmegna, Maximilien Lora, Celia M. T. Greenwood and Marie Hudson

    Citation: BMC Medical Genomics 2019 12:144

    Content type: Research article

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  47. Epigenetic age acceleration, a measure of biological aging based on DNA methylation, is associated with cardiovascular mortality. However, little is known about its relationship with hypertensive target organ ...

    Authors: Jennifer A. Smith, Jeremy Raisky, Scott M. Ratliff, Jiaxuan Liu, Sharon L. R. Kardia, Stephen T. Turner, Thomas H. Mosley and Wei Zhao

    Citation: BMC Medical Genomics 2019 12:141

    Content type: Research article

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  48. Although APOBEC-mutational signature is found in tumor tissues of multiple cancers, how a common germline APOBEC3A/B deletion affects the mutational signature remains unclear.

    Authors: Zhishan Chen, Wanqing Wen, Jiandong Bao, Krystle L. Kuhs, Qiuyin Cai, Jirong Long, Xiao-ou Shu, Wei Zheng and Xingyi Guo

    Citation: BMC Medical Genomics 2019 12:131

    Content type: Research article

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  49. Pneumonia, sepsis, meningitis, and empyema due to Streptococcus pneumoniae is a major cause of morbidity and mortality. We provide a systemic overview of genetic variants associated with susceptibility, phenotype...

    Authors: Anne T. Kloek, Matthijs C. Brouwer and Diederik van de Beek

    Citation: BMC Medical Genomics 2019 12:130

    Content type: Research article

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