Skip to content

Advertisement

You're viewing the new version of our site. Please leave us feedback.

Learn more

BMC Medical Genomics

Prognostics and diagnostics/biomarkers

This section considers studies on the use of genomic markers to diagnose, classify, or predict the risk or prognosis of human disease.

Previous Page Page 1 of 6 Next Page
  1. Content type: Research article

    PD is a progressive neurodegenerative disorder commonly treated by levodopa. The findings from genetic studies on adverse effects (ADRs) and levodopa efficacy are mostly inconclusive. Here, we aim to identify ...

    Authors: Debleena Guin, Manish Kumar Mishra, Puneet Talwar, Chitra Rawat, Suman S. Kushwaha, Shrikant Kukreti and Ritushree Kukreti

    Citation: BMC Medical Genomics 2017 10:56

    Published on:

  2. Content type: Technical advance

    Formalin fixed paraffin embedded (FFPE) tumor samples are a major source of DNA from patients in cancer research. However, FFPE is a challenging material to work with due to macromolecular fragmentation and nu...

    Authors: Jackie L. Ludgate, James Wright, Peter A. Stockwell, Ian M. Morison, Michael R. Eccles and Aniruddha Chatterjee

    Citation: BMC Medical Genomics 2017 10:54

    Published on:

  3. 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

    Published on:

  4. 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

    Published on:

  5. 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

    Published on:

  6. 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

    Published on:

  7. 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

    Published on:

  8. 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

    Published on:

  9. 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

    Published on:

  10. 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

    Published on:

  11. 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

    Published on:

  12. 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

    Published on:

  13. 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

    Published on:

  14. Content type: Technical advance

    The KRAS gene is mutated in about 40 % of colorectal cancer (CRC) cases, which has been clinically validated as a predictive mutational marker of intrinsic resistance to anti-EGFR inhibitor (EGFRi) therapy. Since...

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

    Citation: BMC Medical Genomics 2016 9:65

    Published on:

  15. Content type: Correspondence

    The increasing use of next generation DNA sequencing in clinical medicine is exposing the need for more genetics education in physician training. We piloted an initiative to determine the feasibility of incorp...

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

    Citation: BMC Medical Genomics 2016 9:62

    Published on:

  16. Content type: Research article

    Histopathological assessment has a low potential to predict clinical outcome in patients with the same stage of colorectal cancer. More specific and sensitive biomarkers to determine patients’ survival are nee...

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

    Citation: BMC Medical Genomics 2016 9:58

    Published on:

  17. Content type: Research article

    The difficulties in using formalin-fixed and paraffin-embedded (FFPE) tumour specimens for molecular marker studies have hampered progress in translational cancer research. The cDNA-mediated, annealing, select...

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

    Citation: BMC Medical Genomics 2016 9:54

    Published on:

  18. Content type: Research article

    The diagnosis of acute appendicitis can be surprisingly difficult without computed tomography, which carries significant radiation exposure. Circulating blood cells may carry informative changes in their RNA e...

    Authors: Lakhmir S. Chawla, Ian Toma, Danielle Davison, Khashayar Vaziri, Juliet Lee, Raymond Lucas, Michael G. Seneff, Aoibhinn Nyhan and Timothy A. McCaffrey

    Citation: BMC Medical Genomics 2016 9:40

    Published on:

  19. Content type: Research Article

    At the molecular level breast cancer comprises a heterogeneous set of subtypes associated with clear differences in gene expression and clinical outcomes. Single sample predictors (SSPs) are built via a two-st...

    Authors: Herman MJ. Sontrop, Marcel JT. Reinders and Perry D. Moerland

    Citation: BMC Medical Genomics 2016 9:26

    Published on:

    The Erratum to this article has been published in BMC Medical Genomics 2016 9:39

Previous Page Page 1 of 6 Next Page