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  1. Content type: Case report

    Intratumor heterogeneity (ITH) poses an urgent challenge for cancer precision medicine because it can cause drug resistance against cancer target therapy and immunotherapy. The search for trunk mutations that ...

    Authors: Zhan Zhou, Shanshan Wu, Jun Lai, Yuan Shi, Chixiao Qiu, Zhe Chen, Yufeng Wang, Xun Gu, Jie Zhou and Shuqing Chen

    Citation: BMC Medical Genomics 2017 10:49

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  2. Content type: Research article

    Lung cancer is a leading cause of cancer-related death worldwide and is the most commonly diagnosed cancer. Like other cancers, it is a complex and highly heterogeneous disease involving multiple signaling pat...

    Authors: Salem A. El-aarag, Amal Mahmoud, Medhat H. Hashem, Hatem Abd Elkader, Alaa E. Hemeida and Mahmoud ElHefnawi

    Citation: BMC Medical Genomics 2017 10:40

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  3. Content type: Research article

    Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral ...

    Authors: Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs and Vincent Plagnol

    Citation: BMC Medical Genomics 2017 10:38

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  4. Content type: Software

    An increasing number of precision oncology programmes are being launched world-wide. To support this development, we present the Cancer Variant Explorer (CVE), an R package with an interactive Shiny web browse...

    Authors: Andreas Mock, Suzanne Murphy, James Morris, Francesco Marass, Nitzan Rosenfeld and Charlie Massie

    Citation: BMC Medical Genomics 2017 10:37

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  5. Content type: Research

    Aspirin Exacerbated Respiratory Disease (AERD) is a chronic medical condition that encompasses asthma, nasal polyposis, and hypersensitivity to aspirin and other non-steroidal anti-inflammatory drugs. Several ...

    Authors: Sehee Wang, Hyun-hwan Jeong, Dokyoon Kim, Kyubum Wee, Hae-Sim Park, Seung-Hyun Kim and Kyung-Ah Sohn

    Citation: BMC Medical Genomics 2017 10(Suppl 1):31

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    This article is part of a Supplement: Volume 10 Supplement 1

  6. Content type: Research

    Breast cancer is a complex disease in which different genomic patterns exists depending on different subtypes. Recent researches present that multiple subtypes of breast cancer occur at different rates, and pl...

    Authors: Garam Lee, Lisa Bang, So Yeon Kim, Dokyoon Kim and Kyung-Ah Sohn

    Citation: BMC Medical Genomics 2017 10(Suppl 1):28

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    This article is part of a Supplement: Volume 10 Supplement 1

  7. Content type: Research

    Transcriptome analytic tools are commonly used across patient cohorts to develop drugs and predict clinical outcomes. However, as precision medicine pursues more accurate and individualized treatment decisions...

    Authors: Qike Li, A. Grant Schissler, Vincent Gardeux, Ikbel Achour, Colleen Kenost, Joanne Berghout, Haiquan Li, Hao Helen Zhang and Yves A. Lussier

    Citation: BMC Medical Genomics 2017 10(Suppl 1):27

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    This article is part of a Supplement: Volume 10 Supplement 1

  8. Content type: Research

    One of the fundamental challenges in cancer is to detect the regulators of gene expression changes during cancer progression. Through transcriptional silencing of critical cancer-related genes, epigenetic chan...

    Authors: Manu Shivakumar, Younghee Lee, Lisa Bang, Tullika Garg, Kyung-Ah Sohn and Dokyoon Kim

    Citation: BMC Medical Genomics 2017 10(Suppl 1):30

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    This article is part of a Supplement: Volume 10 Supplement 1

  9. Content type: Research

    Many genetic diseases are caused by mutations in non-coding regions of the genome. These mutations are frequently found in enhancer sequences, causing disruption to the regulatory program of the cell. Enhancer...

    Authors: Julia Herman-Izycka, Michal Wlasnowolski and Bartek Wilczynski

    Citation: BMC Medical Genomics 2017 10(Suppl 1):34

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    This article is part of a Supplement: Volume 10 Supplement 1

  10. Content type: Research

    Complex diseases involve many genes, and these genes are often associated with several different illnesses. Disease similarity measurement can be based on shared genotype or phenotype. Quantifying relationship...

    Authors: Matthew B. Carson, Cong Liu, Yao Lu, Caiyan Jia and Hui Lu

    Citation: BMC Medical Genomics 2017 10(Suppl 1):26

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    This article is part of a Supplement: Volume 10 Supplement 1

  11. Content type: Research

    The APOE ε4 allele is the most significant common genetic risk factor for late-onset Alzheimer’s disease (LOAD). The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. Howev...

    Authors: Kwangsik Nho, Sungeun Kim, Emrin Horgusluoglu, Shannon L. Risacher, Li Shen, Dokyoon Kim, Seunggeun Lee, Tatiana Foroud, Leslie M. Shaw, John Q. Trojanowski, Paul S. Aisen, Ronald C. Petersen, Clifford R. Jack Jr., Michael W. Weiner, Robert C. Green, Arthur W. Toga…

    Citation: BMC Medical Genomics 2017 10(Suppl 1):29

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    This article is part of a Supplement: Volume 10 Supplement 1

  12. Content type: Erratum

    Authors: Laura De-Ugarte, Guy Yoskovitz, Susana Balcells, Robert Güerri-Fernández, Santos Martinez-Diaz, Leonardo Mellibovsky, Roser Urreizti, Xavier Nogués, Daniel Grinberg, Natalia García-Giralt and Adolfo Díez-Pérez

    Citation: BMC Medical Genomics 2017 10:36

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    The original article was published in BMC Medical Genomics 2015 8:75

  13. Content type: Research article

    To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthes...

    Authors: Nina R. Sperber, Janet S. Carpenter, Larisa H. Cavallari, Laura J. Damschroder, Rhonda M. Cooper-DeHoff, Joshua C. Denny, Geoffrey S. Ginsburg, Yue Guan, Carol R. Horowitz, Kenneth D. Levy, Mia A. Levy, Ebony B. Madden, Michael E. Matheny, Toni I. Pollin, Victoria M. Pratt, Marc Rosenman…

    Citation: BMC Medical Genomics 2017 10:35

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  14. Content type: Technical advance

    The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mu...

    Authors: Donavan T. Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E. Robson, Kenneth Offit, Michael F. Berger, Khedoudja Nafa…

    Citation: BMC Medical Genomics 2017 10:33

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  15. Content type: Research article

    Both ambulatory atrial fibrillation (AF) and post-operative AF (poAF) are associated with substantial morbidity and mortality. Analyzing the tissue-specific gene expression in the left atrium (LA) can identify...

    Authors: Martin I Sigurdsson, Louis Saddic, Mahyar Heydarpour, Tzuu-Wang Chang, Prem Shekar, Sary Aranki, Gregory S Couper, Stanton K. Shernan, Jochen D. Muehlschlegel and Simon C. Body

    Citation: BMC Medical Genomics 2017 10:25

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  16. Content type: Research article

    The impacts of direct-to-consumer personal genomic testing (PGT) on health behaviors such as diet and exercise are poorly understood. Our investigation aimed to evaluate diet and exercise changes following PGT...

    Authors: Daiva Elena Nielsen, Deanna Alexis Carere, Catharine Wang, J. Scott Roberts and Robert C. Green

    Citation: BMC Medical Genomics 2017 10:24

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  17. Content type: Research article

    Colon cancer, one of the most common causes of cancer-related deaths, arises from adenomatous polyps. In these years, circulating microRNAs (miRNAs) have attracted increasing attention as novel biomarkers for ...

    Authors: Yajie Zhang, Min Li, Yijiang Ding, Zhimin Fan, Jinchun Zhang, Hongying Zhang, Bin Jiang and Yong Zhu

    Citation: BMC Medical Genomics 2017 10:23

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  18. Content type: Research article

    Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering th...

    Authors: Guo Cheng, Patrick Ho-Yu Chung, Edwin Kin-Wai Chan, Man-Ting So, Pak-Chung Sham, Stacey S. Cherny, Paul Kwong-Hang Tam and Maria-Mercè Garcia-Barceló

    Citation: BMC Medical Genomics 2017 10:22

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  19. Content type: Research article

    Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, which codes for the dystrophin protein. While progress has been made in defining the molecular basis and pathogenesis of DMD, major gaps r...

    Authors: Larry W. Markham, Candice L. Brinkmeyer-Langford, Jonathan H. Soslow, Manisha Gupte, Douglas B. Sawyer, Joe N. Kornegay and Cristi L. Galindo

    Citation: BMC Medical Genomics 2017 10:21

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  20. Content type: Research article

    Patient stratification to identify subtypes with different disease manifestations, severity, and expected survival time is a critical task in cancer diagnosis and treatment. While stratification approaches usi...

    Authors: Kiley Graim, Tiffany Ting Liu, Achal S. Achrol, Evan O. Paull, Yulia Newton, Steven D. Chang, Griffith R. Harsh IV, Sergio P. Cordero, Daniel L. Rubin and Joshua M. Stuart

    Citation: BMC Medical Genomics 2017 10:20

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  21. Content type: Research Article

    Basal-like constitutes an important molecular subtype of breast cancer characterised by an aggressive behaviour and a limited therapy response. The outcome of patients within this subtype is, however, divergen...

    Authors: Heloisa H. Milioli, Inna Tishchenko, Carlos Riveros, Regina Berretta and Pablo Moscato

    Citation: BMC Medical Genomics 2017 10:19

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  22. Content type: Research article

    The importance of accurate and affordable mutation calling in fixed pathology samples is becoming increasingly important as we move into the era of personalised medicine. The Affymetrix OncoScan® Array platfor...

    Authors: Henry M. Wood, Joseph M. Foster, Morag Taylor, Emma Tinkler-Hundal, Fiona S. Togneri, Paula Wojtowicz, Assa Oumie, Karen G. Spink, Fiona Brew and Philip Quirke

    Citation: BMC Medical Genomics 2017 10:17

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  23. Content type: Research Article

    The distinct types of hematological malignancies have different biological mechanisms and prognoses. For instance, myelodysplastic syndrome (MDS) is generally indolent and low risk; however, it may transform i...

    Authors: Amir Foroushani, Rupesh Agrahari, Roderick Docking, Linda Chang, Gerben Duns, Monika Hudoba, Aly Karsan and Habil Zare

    Citation: BMC Medical Genomics 2017 10:16

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  24. Content type: Research article

    Copy number alterations (CNA) and loss of heterozygosity (LOH) represent a large proportion of genetic structural variations of cancer genomes. These aberrations are continuously accumulated during the procedu...

    Authors: Zhenhua Yu, Ao Li and Minghui Wang

    Citation: BMC Medical Genomics 2017 10:15

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  25. Content type: Research Article

    De novo inference of clinically relevant gene function relationships from tumor RNA-seq remains a challenging task. Current methods typically either partition patient samples into a few subtypes or rely upon a...

    Authors: Shirley Pepke and Greg Ver Steeg

    Citation: BMC Medical Genomics 2017 10:12

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  26. Content type: Research article

    Epithelial to mesenchymal transition, and mimicking processes, contribute to cancer invasion and metastasis, and are known to be responsible for resistance to various therapeutic agents in many cancers. While ...

    Authors: Orieta Celiku, Anita Tandle, Joon-Yong Chung, Stephen M. Hewitt, Kevin Camphausen and Uma Shankavaram

    Citation: BMC Medical Genomics 2017 10:13

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  27. Content type: Research article

    The PALB2 gene encodes a protein that plays a crucial role in maintaining genomic integrity. Germline inactivating mutations in PALB2 are associated with an increased risk of breast and ovarian cancer. The preval...

    Authors: Anna Kluska, Aneta Balabas, Magdalena Piatkowska, Katarzyna Czarny, Katarzyna Paczkowska, Dorota Nowakowska, Michal Mikula and Jerzy Ostrowski

    Citation: BMC Medical Genomics 2017 10:14

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  28. Content type: Research article

    Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, ther...

    Authors: Han Fang, Yiyang Wu, Hui Yang, Margaret Yoon, Laura T. Jiménez-Barrón, David Mittelman, Reid Robison, Kai Wang and Gholson J. Lyon

    Citation: BMC Medical Genomics 2017 10:10

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  29. Content type: Research article

    Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating idiopathic disease characterized by unexplained fatigue that fails to resolve with sufficient rest. Diagnosis is based on a list of...

    Authors: Wilfred C. de Vega, Santiago Herrera, Suzanne D. Vernon and Patrick O. McGowan

    Citation: BMC Medical Genomics 2017 10:11

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  30. Content type: Research article

    The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is p...

    Authors: Jan M. Friedman, Martina C. Cornel, Aaron J. Goldenberg, Karla J. Lister, Karine Sénécal and Danya F. Vears

    Citation: BMC Medical Genomics 2017 10:9

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  31. Content type: Research article

    Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16–40% of familial BC, while other high, moderate and low susceptibility genes e...

    Authors: Nadine Jalkh, Eliane Chouery, Zahraa Haidar, Christina Khater, David Atallah, Hamad Ali, Makia J. Marafie, Mohamed R. Al-Mulla, Fahd Al-Mulla and Andre Megarbane

    Citation: BMC Medical Genomics 2017 10:8

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  32. Content type: Research article

    Type 1 diabetes (T1D) is an autoimmune disease and extensive evidence has indicated a critical role of both the innate and the adaptive arms of immune system in disease development. To date most clinical trial...

    Authors: Shouguo Gao, Nathaniel Wolanyk, Ye Chen, Shuang Jia, Martin J. Hessner and Xujing Wang

    Citation: BMC Medical Genomics 2017 10:7

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  33. Content type: Research article

    Clonal expansion of leukemic cells leads to onset of adult T-cell leukemia (ATL), an aggressive lymphoid malignancy with a very poor prognosis. Infection with human T-cell leukemia virus type-1 (HTLV-1) is the...

    Authors: Amir Farmanbar, Sanaz Firouzi, Sung-Joon Park, Kenta Nakai, Kaoru Uchimaru and Toshiki Watanabe

    Citation: BMC Medical Genomics 2017 10:4

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  34. Content type: Case report

    Microcephaly has become a major public health problem in Brazil. The total number of newborns with microcephaly was reported to be >4000 in June 2016. Studies suggest that Zika Virus is a major cause of new mi...

    Authors: Diogo Antonio Tschoeke, Louisi Souza de Oliveira, Luciana Leomil, Amilcar Tanuri and Fabiano Lopes Thompson

    Citation: BMC Medical Genomics 2017 10:5

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  35. Content type: Debate

    It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health ...

    Authors: Andrew Smart, Deborah A. Bolnick and Richard Tutton

    Citation: BMC Medical Genomics 2017 10:3

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  36. Content type: Research article

    Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic a...

    Authors: Agnieszka Paziewska, Andrzej Habior, Agnieszka Rogowska, Włodzimierz Zych, Krzysztof Goryca, Jakub Karczmarski, Michalina Dabrowska, Filip Ambrozkiewicz, Bozena Walewska-Zielecka, Marek Krawczyk, Halina Cichoz-Lach, Piotr Milkiewicz, Agnieszka Kowalik, Krzysztof Mucha, Joanna Raczynska, Joanna Musialik…

    Citation: BMC Medical Genomics 2017 10:2

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  37. Content type: Research article

    Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic st...

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

    Citation: BMC Medical Genomics 2016 9:75

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  38. Content type: Research

    High dimensional feature space generally degrades classification in several applications. In this paper, we propose a strategy called gene masking, in which non-contributing dimensions are heuristically remove...

    Authors: Harsh Saini, Sunil Pranit Lal, Vimal Vikash Naidu, Vincel Wince Pickering, Gurmeet Singh, Tatsuhiko Tsunoda and Alok Sharma

    Citation: BMC Medical Genomics 2016 9(Suppl 3):74

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    This article is part of a Supplement: Volume 9 Supplement 3

  39. Content type: Research

    The hypergeometric enrichment analysis approach typically fares poorly in feature-selection stability due to its upstream reliance on the t-test to generate differential protein lists before testing for enrichmen...

    Authors: Wilson Wen Bin Goh

    Citation: BMC Medical Genomics 2016 9(Suppl 3):67

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    This article is part of a Supplement: Volume 9 Supplement 3

  40. Content type: Research

    Gene expression has been used to identify disease gene biomarkers, but there are ongoing challenges. Single gene or gene-set biomarkers are inadequate to provide sufficient understanding of complex disease mec...

    Authors: Narumol Doungpan, Worrawat Engchuan, Jonathan H. Chan and Asawin Meechai

    Citation: BMC Medical Genomics 2016 9(Suppl 3):70

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    This article is part of a Supplement: Volume 9 Supplement 3

  41. Content type: Research

    Epigenetics of schizophrenia provides important information on how the environmental factors affect the genetic architecture of the disease. DNA methylation plays a pivotal role in etiology for schizophrenia. ...

    Authors: Sheng-An Lee and Kuo-Chuan Huang

    Citation: BMC Medical Genomics 2016 9(Suppl 3):68

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    This article is part of a Supplement: Volume 9 Supplement 3

  42. Content type: Research

    The human influenza viruses undergo rapid evolution (especially in hemagglutinin (HA), a glycoprotein on the surface of the virus), which enables the virus population to constantly evade the human immune syste...

    Authors: Haifen Chen, Xinrui Zhou, Jie Zheng and Chee-Keong Kwoh

    Citation: BMC Medical Genomics 2016 9(Suppl 3):69

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    This article is part of a Supplement: Volume 9 Supplement 3

  43. Content type: Research

    DNA palindromes are a unique pattern of repeat sequences that are present in the human genome. It consists of a sequence of nucleotides in which the second half is the complement of the first half but appearin...

    Authors: Sandeep Subramanian, Srilakshmi Chaparala, Viji Avali and Madhavi K. Ganapathiraju

    Citation: BMC Medical Genomics 2016 9(Suppl 3):73

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    This article is part of a Supplement: Volume 9 Supplement 3

  44. Content type: Research article

    Oxidative stress has been related to type 2 diabetes (T2D) and cardiovascular disease (CVD), the leading global cause of death. Contributions of environmental factors such as oxidative stress on complex traits...

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

    Citation: BMC Medical Genomics 2016 9:72

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  45. Content type: Research article

    Research suggests that multidisciplinary genomic tumor boards (MGTB) can inform cancer patient care, though little is known about factors influencing how MGTBs interpret genomic test results, make recommendati...

    Authors: Michelle L. McGowan, Roselle S. Ponsaran, Paula Silverman, Lyndsay N. Harris and Patricia A. Marshall

    Citation: BMC Medical Genomics 2016 9:71

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