BMC Medical Genomics

Editor Highlights

New Content Item Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

New Content Item PO2RDF: representation of real-world data for precision oncology using resource description framework

New Content Item

Identifying genetic markers enriched by brain imaging endophenotypes in Alzheimer’s disease

New Content Item (1) Candidate genes for infertility: an in-silico study based on cytogenetic analysis

High expression of serine and arginine-rich splicing factor 9 (SRSF9) is associated with hepatocellular carcinoma progression and a poor prognosis

Authors: Guoshun Zhang, Bin Liu, Hua Shang, Guikai Wu, Diyang Wu, Liuqing Wang, Shengnan Li, Zhiyuan Wang, Suying Wang and Juxiang Yuan

Content type: Research 15 August 2022
RS12574989 and haplotype associated with α/β-chain imbalance and population HbA2 reduction

Authors: Qiyin Lin, Yingjun Xie, Xuan Zhong, Xiaofang Sun and Ding Wang

Content type: Research 15 August 2022
Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

Authors: Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao and Daxing Tang

Content type: Research article 15 August 2022
Screening and identification of immune-related genes for immunotherapy and prognostic assessment in colorectal cancer patients

Authors: Shuwei Wang, Liang Cheng, Fa Jing and Gan Li

Content type: Research 8 August 2022
Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation

Authors: Qi-hao Zhang, Yan Zhang, Rui-xuan He, Han-ming Guo and Xin-guang Wang

Content type: Research 7 August 2022

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Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases

Authors: Douglas B Kell

Content type: Review 8 January 2009
Mitochondrial proteomics of nasopharyngeal carcinoma metastasis

Authors: Jianping Liu, Xianquan Zhan, Maoyu Li, Guoqing Li, Pengfei Zhang, Zhefeng Xiao, Meiying Shao, Fang Peng, Rong Hu and Zhuchu Chen

Content type: Research article 6 December 2012
From big data analysis to personalized medicine for all: challenges and opportunities

Authors: Akram Alyass, Michelle Turcotte and David Meyre

Content type: Review 27 June 2015
PAM50 Breast Cancer Subtyping by RT-qPCR and Concordance with Standard Clinical Molecular Markers

Authors: Roy RL Bastien, Álvaro Rodríguez-Lescure, Mark TW Ebbert, Aleix Prat, Blanca Munárriz, Leslie Rowe, Patricia Miller, Manuel Ruiz-Borrego, Daniel Anderson, Bradley Lyons, Isabel Álvarez, Tracy Dowell, David Wall, Miguel Ángel Seguí, Lee Barley, Kenneth M Boucher…

Content type: Research article 4 October 2012
Loss of heterozygosity: what is it good for?

Authors: Georgina L. Ryland, Maria A. Doyle, David Goode, Samantha E. Boyle, David Y.H. Choong, Simone M. Rowley, Jason Li, David DL Bowtell, Richard W. Tothill, Ian G. Campbell and Kylie L. Gorringe

Content type: Research article 1 August 2015

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Aims and scope

BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genetics and genomics, genome structure, genome-scale population genetics, epigenetics and epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.

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Capturing the wider (anticipated or unanticipated) impacts of complex public health interventions using Ripple Effects Mapping

16 August 2022
Highlights of the BMC Series – June 2022

22 July 2022
Introducing the BMC Series SDG Editorial Board Members: Jean-Michel Heraud

28 June 2022

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BMC Medical Genomics

Editor Highlights

Articles

High expression of serine and arginine-rich splicing factor 9 (SRSF9) is associated with hepatocellular carcinoma progression and a poor prognosis

RS12574989 and haplotype associated with α/β-chain imbalance and population HbA2 reduction

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

Screening and identification of immune-related genes for immunotherapy and prognostic assessment in colorectal cancer patients

Anatomical characteristics and potential gene mutation sites of a familial recurrent patellar dislocation

Iron behaving badly: inappropriate iron chelation as a major contributor to the aetiology of vascular and other progressive inflammatory and degenerative diseases

Mitochondrial proteomics of nasopharyngeal carcinoma metastasis

From big data analysis to personalized medicine for all: challenges and opportunities

PAM50 Breast Cancer Subtyping by RT-qPCR and Concordance with Standard Clinical Molecular Markers

Loss of heterozygosity: what is it good for?

Aims and scope

Spotlight On

High resolution biology

BMC Series Blog

Capturing the wider (anticipated or unanticipated) impacts of complex public health interventions using Ripple Effects Mapping

Highlights of the BMC Series – June 2022

Introducing the BMC Series SDG Editorial Board Members: Jean-Michel Heraud

Latest Tweets

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