Arab gene geography: From population diversities to personalized medical genomics

Ghazi O. Tadmouri; Konduru S. Sastry; Lotfi Chouchane

doi:10.5339/gcsp.2014.54

Findings from the Section on Bioinformatics and Translational Informatics

Yearbook of Medical Informatics ◽

10.15265/iy-2016-050 ◽

2017 ◽

Vol 26 (01) ◽

pp. 188-192 ◽

Cited By ~ 1

Author(s):

H. Dauchel ◽

T. Lecroq

Keyword(s):

Intelligent Systems ◽

Large Scale ◽

Cancer Genomics ◽

Clinical Care ◽

Evaluation Process ◽

Omics Data ◽

Health Domain ◽

Medical Genomics ◽

Research Activities ◽

Translational Informatics

Summary Objective: To summarize excellent current research and propose a selection of best papers published in 2016 in the field of Bioinformatics and Translational Informatics with applications in the health domain and clinical care. Methods: We provide a synopsis of the articles selected for the IMIA Yearbook 2017, from which we attempt to derive a synthetic overview of current and future activities in the field. As in 2016, a first step of selection was performed by querying MEDLINE with a list of MeSH descriptors completed by a list of terms adapted to the section coverage. Each section editor evaluated separately the set of 951 articles returned and evaluation results were merged for retaining 15 candidate best papers for peer-review. Results: The selection and evaluation process of papers published in the Bioinformatics and Translational Informatics field yielded four excellent articles focusing this year on the secondary use and massive integration of multi-omics data for cancer genomics and non-cancer complex diseases. Papers present methods to study the functional impact of genetic variations, either at the level of the transcription or at the levels of pathway and network. Conclusions: Current research activities in Bioinformatics and Translational Informatics with applications in the health domain continue to explore new algorithms and statistical models to manage, integrate, and interpret large-scale genomic datasets. As addressed by some of the selected papers, future trends would include the question of the international collaborative sharing of clinical and omics data, and the implementation of intelligent systems to enhance routine medical genomics.

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Primer on Medical Genomics Part I: History of Genetics and Sequencing of the Human Genome

Mayo Clinic Proceedings ◽

10.4065/77.8.773 ◽

2002 ◽

Vol 77 (8) ◽

pp. 773-782 ◽

Cited By ~ 18

Author(s):

Cindy Pham Lorentz ◽

Eric D. Wieben ◽

Ayalew Tefferi ◽

David A.H. Whiteman ◽

Gordon W. Dewald

Keyword(s):

Human Genome ◽

History Of Genetics ◽

Medical Genomics ◽

History Of

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Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population

Genes ◽

10.3390/genes10050352 ◽

2019 ◽

Vol 10 (5) ◽

pp. 352 ◽

Cited By ~ 28

Author(s):

Karen H. Miga

Keyword(s):

Human Genome ◽

Satellite Dna ◽

Human Population ◽

Sequence Variation ◽

Tandem Repeats ◽

Association Studies ◽

Unmet Need ◽

Satellite Dnas ◽

Dna Variation ◽

Medical Genomics

The central goal of medical genomics is to understand the inherited basis of sequence variation that underlies human physiology, evolution, and disease. Functional association studies currently ignore millions of bases that span each centromeric region and acrocentric short arm. These regions are enriched in long arrays of tandem repeats, or satellite DNAs, that are known to vary extensively in copy number and repeat structure in the human population. Satellite sequence variation in the human genome is often so large that it is detected cytogenetically, yet due to the lack of a reference assembly and informatics tools to measure this variability, contemporary high-resolution disease association studies are unable to detect causal variants in these regions. Nevertheless, recently uncovered associations between satellite DNA variation and human disease support that these regions present a substantial and biologically important fraction of human sequence variation. Therefore, there is a pressing and unmet need to detect and incorporate this uncharacterized sequence variation into broad studies of human evolution and medical genomics. Here I discuss the current knowledge of satellite DNA variation in the human genome, focusing on centromeric satellites and their potential implications for disease.

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