Articles

Sort by
Previous Page Page 1 of 31 Next Page
  1. Research article

    Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing

    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...

    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

    BMC Medical Genomics 2017 10:17

    Published on: 18 March 2017

  2. Research Article

    Large-scale gene network analysis reveals the significance of extracellular matrix pathway and homeobox genes in acute myeloid leukemia: an introduction to the Pigengene package and its applications

    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...

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

    BMC Medical Genomics 2017 10:16

    Published on: 16 March 2017

  3. Research article

    PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland

    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...

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

    BMC Medical Genomics 2017 10:14

    Published on: 9 March 2017

  4. Research article

    Computational analysis of the mesenchymal signature landscape in gliomas

    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 ...

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

    BMC Medical Genomics 2017 10:13

    Published on: 9 March 2017

  5. Research article

    Epigenetic modifications and glucocorticoid sensitivity in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)

    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...

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

    BMC Medical Genomics 2017 10:11

    Published on: 23 February 2017

  6. Research article

    Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

    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...

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

    BMC Medical Genomics 2017 10:10

    Published on: 23 February 2017

  7. Research article

    Genomic newborn screening: public health policy considerations and recommendations

    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...

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

    BMC Medical Genomics 2017 10:9

    Published on: 21 February 2017

  8. Research article

    Next-generation sequencing in familial breast cancer patients from Lebanon

    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...

    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

    BMC Medical Genomics 2017 10:8

    Published on: 15 February 2017

  9. Research article

    Multidisciplinary insight into clonal expansion of HTLV-1–infected cells in adult T-cell leukemia via modeling by deterministic finite automata coupled with high-throughput sequencing

    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...

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

    BMC Medical Genomics 2017 10:4

    Published on: 31 January 2017

  10. Research article

    Investigation of coordination and order in transcription regulation of innate and adaptive immunity genes in type 1 diabetes

    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...

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

    BMC Medical Genomics 2017 10:7

    Published on: 31 January 2017

  11. Case report

    Pregnant women carrying microcephaly foetuses and Zika virus contain potentially pathogenic microbes and parasites in their amniotic fluid

    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...

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

    BMC Medical Genomics 2017 10:5

    Published on: 11 January 2017

  12. Debate

    Health and genetic ancestry testing: time to bridge the gap

    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 ...

    Andrew Smart, Deborah A. Bolnick and Richard Tutton

    BMC Medical Genomics 2017 10:3

    Published on: 9 January 2017

  13. Research article

    A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients

    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...

    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…

    BMC Medical Genomics 2017 10:2

    Published on: 6 January 2017

  14. Research article

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

    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...

    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

    BMC Medical Genomics 2016 9:75

    Published on: 12 December 2016

  15. Research

    A pilot study on the prevalence of DNA palindromes in breast cancer genomes

    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...

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

    BMC Medical Genomics 2016 9(Suppl 3):73

    Published on: 5 December 2016

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

  16. Research

    Rules of co-occurring mutations characterize the antigenic evolution of human influenza A/H3N2, A/H1N1 and B viruses

    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...

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

    BMC Medical Genomics 2016 9(Suppl 3):69

    Published on: 5 December 2016

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

  17. Research

    GSNFS: Gene subnetwork biomarker identification of lung cancer expression data

    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...

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

    BMC Medical Genomics 2016 9(Suppl 3):70

    Published on: 5 December 2016

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

  18. Research

    Fuzzy-FishNET: a highly reproducible protein complex-based approach for feature selection in comparative proteomics

    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...

    Wilson Wen Bin Goh

    BMC Medical Genomics 2016 9(Suppl 3):67

    Published on: 5 December 2016

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

Previous Page Page 1 of 31 Next Page