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Volume 9; Issue 1

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BMC Medical Genomics
Volume 9; Issue 1

BMC Medical Genomics

Volume 9; Issue 1

1

Genetic association and stress mediated down-regulation in trabecular meshwork implicatesMPP7as a novel candidate gene in primary open angle glaucoma

Vishal, Mansi, Sharma, Anchal, Kaurani, Lalit, Alfano, Giovanna, Mookherjee, Suddhasil, Narta, Kiran, Agrawal, Jyoti, Bhattacharya, Iman, Roychoudhury, Susanta, Ray, Jharna, Waseem, Naushin H., Bhatta

Journal:

BMC Medical Genomics

Année:

2016

Fichier:

PDF, 1.26 MB

2016

2

Genetic association and stress mediated down-regulation in trabecular meshwork implicatesMPP7as a novel candidate gene in primary open angle glaucoma

Vishal, Mansi, Sharma, Anchal, Kaurani, Lalit, Alfano, Giovanna, Mookherjee, Suddhasil, Narta, Kiran, Agrawal, Jyoti, Bhattacharya, Iman, Roychoudhury, Susanta, Ray, Jharna, Waseem, Naushin H., Bhatta

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2016

3

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

An, Yu, Duan, Wenyuan, Huang, Guoying, Chen, Xiaoli, Li, Li, Nie, Chenxia, Hou, Jia, Gui, Yonghao, Wu, Yiming, Zhang, Feng, Shen, Yiping, Wu, Bailin, Wang, Hongyan

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 625 KB

english, 2016

4

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 481 KB

english, 2016

5

Experiences and attitudes of residents regarding a community-based genome cohort study in Japan: a population-based, cross-sectional study

Miyamoto, Keiko, Iwakuma, Miho, Nakayama, Takeo

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 744 KB

english, 2016

6

Attitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation

Nicholls, Stuart G., Etchegary, Holly, Carroll, June C., Castle, David, Lemyre, Louise, Potter, Beth K., Craigie, Samantha, Wilson, Brenda J.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2016

7

A comparison of genomic profiles of complex diseases under different models

Potenciano, Víctor, Abad-Grau, María Mar, Alcina, Antonio, Matesanz, Fuencisla

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.99 MB

english, 2016

8

The IGNITE network: a model for genomic medicine implementation and research

Weitzel, Kristin Wiisanen, Alexander, Madeline, Bernhardt, Barbara A., Calman, Neil, Carey, David J., Cavallari, Larisa H., Field, Julie R., Hauser, Diane, Junkins, Heather A., Levin, Phillip A., Levy

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2016

9

Cancer survival analysis using semi-supervised learning method based on Cox and AFT models with L1/2regularization

Liang, Yong, Chai, Hua, Liu, Xiao-Ying, Xu, Zong-Ben, Zhang, Hai, Leung, Kwong-Sak

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.73 MB

english, 2016

10

SOX5 is involved in balancedMITFregulation in human melanoma cells

Kordaß, Theresa, Weber, Claudia E. M., Oswald, Marcus, Ast, Volker, Bernhardt, Mathias, Novak, Daniel, Utikal, Jochen, Eichmüller, Stefan B., König, Rainer

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2016

11

Differential gene network analysis for the identification of asthma-associated therapeutic targets in allergen-specific T-helper memory responses

Troy, Niamh M., Hollams, Elysia M., Holt, Patrick G., Bosco, Anthony

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 3.25 MB

english, 2016

12

Saliva DNA quality and genotyping efficiency in a predominantly elderly population

Gudiseva, Harini V., Hansen, Mark, Gutierrez, Linda, Collins, David W., He, Jie, Verkuil, Lana D., Danford, Ian D., Sagaser, Anna, Bowman, Anita S., Salowe, Rebecca, Sankar, Prithvi S., Miller-Ellis,

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2016

13

Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia

Wan, Yang, Zhang, Qian, Zhang, Zhaojun, Song, Binfeng, Wang, Xiaomin, Zhang, Yingchi, Jia, Qiong, Cheng, Tao, Zhu, Xiaofan, Leung, Anskar Yu-Hung, Yuan, Weiping, Jia, Haibo, Fang, Xiangdong

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.86 MB

english, 2016

14

A microRNA biomarker of hepatocellular carcinoma recurrence following liver transplantation accounting for within-patient heterogeneity

Xie, Qing Yan, Almudevar, Anthony, Whitney-Miller, Christa L., Barry, Christopher T., McCall, Matthew N.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2016

15

Impact of polymorphisms in microRNA biogenesis genes on colon cancer risk and microRNA expression levels: a population-based, case-control study

Mullany, Lila E., Herrick, Jennifer S., Wolff, Roger K., Buas, Matthew F., Slattery, Martha L.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 513 KB

english, 2016

16

Building towards precision medicine: empowering medical professionals for the next revolution

McGrath, Scott, Ghersi, Dario

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 439 KB

english, 2016

17

Integrative analyses of proteomics and RNA transcriptomics implicate mitochondrial processes, protein folding pathways and GWAS loci in Parkinson disease

Dumitriu, Alexandra, Golji, Javad, Labadorf, Adam T., Gao, Benbo, Beach, Thomas G., Myers, Richard H., Longo, Kenneth A., Latourelle, Jeanne C.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 944 KB

english, 2016

18

Efficient and biologically relevant consensus strategy for Parkinson’s disease gene prioritization

Cruz-Monteagudo, Maykel, Borges, Fernanda, Paz-y-Miño, Cesar, Cordeiro, M. Natália D. S., Rebelo, Irene, Perez-Castillo, Yunierkis, Helguera, Aliuska Morales, Sánchez-Rodríguez, Aminael, Tejera, Eduar

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 3.36 MB

english, 2016

19

Case-oriented pathways analysis in pancreatic adenocarcinoma using data from a sleeping beauty transposon mutagenesis screen

Ho, Yen-Yi, Starr, Timothy K., LaRue, Rebecca S., Largaespada, David A.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2016

20

Longitudinal genome-wide methylation study of Roux-en-Y gastric bypass patients reveals novel CpG sites associated with essential hypertension

Boström, Adrian E., Mwinyi, Jessica, Voisin, Sarah, Wu, Wenting, Schultes, Bernd, Zhang, Kang, Schiöth, Helgi B.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 564 KB

english, 2016

21

Machine learning derived risk prediction of anorexia nervosa

Guo, Yiran, Wei, Zhi, Keating, Brendan J., Hakonarson, Hakon

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 635 KB

english, 2016

22

Annual Acknowledgement of Reviewers

Sands, Timothy R.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 286 KB

english, 2016

23

Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy

Kim, Sunshin, Jung, HeeJung, Han, Sung Hee, Lee, SeungJae, Kwon, JeongSub, Kim, Min Gyun, Chu, Hyungsik, Chen, Hongliang, Han, Kyudong, Kwak, Hwanjong, Park, Sunghoon, Joo, Hee Jae, Kim, Byung Chul, B

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 746 KB

english, 2016

24

Gene expression profiling in necrotizing enterocolitis reveals pathways common to those reported in Crohn’s disease

Tremblay, Éric, Thibault, Marie-Pier, Ferretti, Emanuela, Babakissa, Corentin, Bertelle, Valérie, Bettolli, Marcos, Burghardt, Karolina Maria, Colombani, Jean-François, Grynspan, David, Levy, Emile, L

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 962 KB

english, 2016

25

Study design and data analysis considerations for the discovery of prognostic molecular biomarkers: a case study of progression free survival in advanced serous ovarian cancer

Qin, Li-Xuan, Levine, Douglas A.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 847 KB

english, 2016

26

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Charng, Wu-Lin, Karaca, Ender, Coban Akdemir, Zeynep, Gambin, Tomasz, Atik, Mehmed M., Gu, Shen, Posey, Jennifer E., Jhangiani, Shalini N., Muzny, Donna M., Doddapaneni, Harsha, Hu, Jianhong, Boerwink

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 3.68 MB

english, 2016

27

A network based approach to drug repositioning identifies plausible candidates for breast cancer and prostate cancer

Chen, Hsiao-Rong, Sherr, David H., Hu, Zhenjun, DeLisi, Charles

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2016

28

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

Mucaki, Eliseos J., Caminsky, Natasha G., Perri, Ami M., Lu, Ruipeng, Laederach, Alain, Halvorsen, Matthew, Knoll, Joan H. M., Rogan, Peter K.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 2.85 MB

english, 2016

29

An adaptive detection method for fetal chromosomal aneuploidy using cell-free DNA from 447 Korean women

Kim, Sunshin, Jung, HeeJung, Han, Sung Hee, Lee, SeungJae, Kwon, JeongSub, Kim, Min Gyun, Chu, Hyungsik, Han, Kyudong, Kwak, Hwanjong, Park, Sunghoon, Joo, Hee Jae, An, Minae, Ha, Jungsu, Lee, Kyusang

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 713 KB

english, 2016

30

The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum

Gerhard, Glenn S., Jin, Qunyan, Paynton, Barbara V., Popoff, Steven N.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 480 KB

english, 2016

31

Within-pair differences of DNA methylation levels between monozygotic twins are different between male and female pairs

Watanabe, Mikio, Honda, Chika, Iwatani, Yoshinori, Yorifuji, Shiro, Iso, Hiroyasu, Kamide, Kei, Hatazawa, Jun, Kihara, Shinji, Sakai, Norio, Watanabe, Hiroko, Makimoto, Kiyoko, Watanabe, Mikio, Honda,

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.65 MB

english, 2016

32

Adaptation of a RAS pathway activation signature from FF to FFPE tissues in colorectal cancer

Omolo, Bernard, Yang, Mingli, Lo, Fang Yin, Schell, Michael J., Austin, Sharon, Howard, Kellie, Madan, Anup, Yeatman, Timothy J.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 947 KB

english, 2016

33

Breast cancer subtype predictors revisited: from consensus to concordance?

MJ. Sontrop, Herman, JT. Reinders, Marcel, D. Moerland, Perry

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.65 MB

english, 2016

34

Reliable gene expression profiling of formalin-fixed paraffin-embedded breast cancer tissue (FFPE) using cDNA-mediated annealing, extension, selection, and ligation whole-genome (DASL WG) assay

Iddawela, Mahesh, Rueda, Oscar M., Klarqvist, Marcus, Graf, Stefan, Earl, Helena M., Caldas, Carlos

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 2.37 MB

english, 2016

35

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle, Hétu, Martin, Joly, Yann

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 985 KB

english, 2016

36

Erratum to: RNA sequencing reveals a depletion of collagen targeting microRNAs in Dupuytren’s disease

Riester, Scott M., Arsoy, Diren, Camilleri, Emily T., Dudakovic, Amel, Paradise, Christopher R., Evans, Jared M., Torres-Mora, Jorge, Rizzo, Marco, Kloen, Peter, Kruithof-de Julio, Marianna, van Wijne

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 337 KB

english, 2016

37

Pitfalls of improperly procured adjacent non-neoplastic tissue for somatic mutation analysis using next-generation sequencing

Wei, Lei, Papanicolau-Sengos, Antonios, Liu, Song, Wang, Jianmin, Conroy, Jeffrey M., Glenn, Sean T., Brese, Elizabeth, Hu, Qiang, Miles, Kiersten Marie, Burgher, Blake, Qin, Maochun, Head, Karen, Omi

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 901 KB

english, 2016

38

DNA methylation patterns associated with oxidative stress in an ageing population

Hedman, Åsa K., Zilmer, Mihkel, Sundström, Johan, Lind, Lars, Ingelsson, Erik

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 863 KB

english, 2016

39

Shared and unique common genetic determinants between pediatric and adult celiac disease

Senapati, Sabyasachi, Sood, Ajit, Midha, Vandana, Sood, Neena, Sharma, Suresh, Kumar, Lalit, Thelma, B. K.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 468 KB

english, 2016

40

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes

Wong, John K. L., Campbell, Desmond, Ngo, Ngoc Diem, Yeung, Fanny, Cheng, Guo, Tang, Clara S. M., Chung, Patrick H. Y., Tran, Ngoc Son, So, Man-ting, Cherny, Stacey S., Sham, Pak C., Tam, Paul K., Gar

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 541 KB

english, 2016

41

A 19-Gene expression signature as a predictor of survival in colorectal cancer

Abdul Aziz, Nurul Ainin, Mokhtar, Norfilza M., Harun, Roslan, Mollah, Md Manir Hossain, Mohamed Rose, Isa, Sagap, Ismail, Mohd Tamil, Azmi, Wan Ngah, Wan Zurinah, Jamal, Rahman

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2016

42

Known unknowns: building an ethics of uncertainty into genomic medicine

Newson, Ainsley J., Leonard, Samantha J., Hall, Alison, Gaff, Clara L.

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 474 KB

english, 2016

43

Protecting genomic data analytics in the cloud: state of the art and opportunities

Tang, Haixu, Jiang, Xiaoqian, Wang, Xiaofeng, Wang, Shuang, Sofia, Heidi, Fox, Dov, Lauter, Kristin, Malin, Bradley, Telenti, Amalio, Xiong, Li, Ohno-Machado, Lucila

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 468 KB

english, 2016

44

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

Moran Gal,Khen Khermesh,Michal Barak,Min Lin,Hadas Lahat…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 794 KB

english, 2016

45

Acute appendicitis: transcript profiling of blood identifies promising biomarkers and potential underlying processes

Lakhmir S. Chawla,Ian Toma,Danielle Davison,Khashayar Vaziri…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.77 MB

english, 2016

46

Genome-wide positioning of bivalent mononucleosomes

Subhojit Sen,Kirsten F. Block,Alice Pasini,Stephen B. Baylin…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 2.34 MB

english, 2016

47

“A rising tide lifts all boats”: establishing a multidisciplinary genomic tumor board for breast cancer patients with advanced disease

Michelle L. McGowan,Roselle S. Ponsaran,Paula Silverman…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 493 KB

english, 2016

48

Reproducible detection of disease-associated markers from gene expression data

Katsuhiro Omae,Osamu Komori,Shinto Eguchi

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2016

49

Explorations to improve the completeness of exome sequencing

Chen Du,Barbara N. Pusey,Christopher J. Adams,C. Christopher Lau…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.76 MB

english, 2016

50

Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells

Andréanne Morin,Tony Kwan,Bing Ge,Louis Letourneau,Maria Ban…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 2.90 MB

english, 2016

51

A meta-analysis of public microarray data identifies gene regulatory pathways deregulated in peripheral blood mononuclear cells from individuals with Systemic Lupus Erythematosus compared to those without

Wendy Kröger,Darlington Mapiye,Jean-Baka Domelevo Entfellner…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 842 KB

english, 2016

52

Erratum to: Breast cancer subtype predictors revisited: from consensus to concordance?

Herman M. J. Sontrop,Marcel J. T. Reinders,Perry D. Moerland

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 338 KB

english, 2016

53

Dealing with prognostic signature instability: a strategy illustrated for cardiovascular events in patients with end-stage renal disease

Harald Binder,Thorsten Kurz,Sven Teschner,Clemens Kreutz…

Journal:

BMC Medical Genomics

Année:

2016

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2016