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The Application of Clinical Genetics

The Application of Clinical Genetics is an international, peer-reviewed, open access online journal that welcomes laboratory and clinical findings in human genetics, including population and functional genetics, genetic disease mechanisms and management, counseling and ethical issues, animal models, pharmacogenetics, prenatal diagnosis, and dysmorphology.

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Subject Genetics & Heredity
Impact Factor 2.8
Quartile Q2
Open Access Type Open
eISSN 1178-704X
Invitation Only No
Cost Range Invited reviews are exempt from paying any publication processing fee.

Submission Instructions

The Application of Clinical Genetics accepts the following article types. Click on an article type to view submission instructions.

Original Research

Cover Letter Cover Letter requirements are not specified.
Abstract A structured abstract is required for Original Research articles. Abstract must not exceed 300 words. Abstract must be structured.
Manuscript Manuscript must include the sections Corresponding author, Introduction, Material and Methods, Results, Discussion, Conclusions, and Abbreviations if any. Manuscript must include 3–6 keywords and must acknowledge the use of AI if AI tools were used in preparing the paper.
References References must follow American Medical Association (AMA) style. References must be cited sequentially by superscript Arabic numerals and listed numerically in citation order, listing all authors when there are six or fewer and the first three followed by et al. when there are more than six.
Figures & Tables Figures must be uploaded separate from the manuscript, while tables may be included in the manuscript or submitted as separate files. Tables must be submitted in an editable format rather than as images.
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Reviews

Cover Letter Cover Letter requirements are not specified.
Abstract Abstract must not exceed 300 words.
Manuscript Manuscript must include 3–6 keywords and acknowledge any use of AI tools.
References References must follow American Medical Association (AMA) style. References must be cited sequentially by superscript Arabic numerals, listed numerically in citation order, use PubMed journal abbreviations, list all authors when there are six or fewer, list the first three authors followed by et al. when there are more than six, and for Reviews must be relevant, fair, balanced, and not biased toward a particular research group, organization, or journal.
Figures & Tables Figures must be uploaded separately from the manuscript with one file per figure, while tables may be included in the manuscript or submitted as separate files. Figures must not be pasted into the manuscript, and tables must be submitted in editable format rather than as images.
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Case Studies

Cover Letter Cover Letter requirements are not specified.
Abstract Abstract must not exceed 300 words.
Manuscript Case Studies must describe a single patient case. Manuscripts must include 3–6 keywords and must acknowledge the use of AI if AI tools were used.
References References must follow American Medical Association (AMA) style. References must be cited sequentially by superscript Arabic numerals and listed numerically in citation order, with all authors listed for six or fewer authors and the first three authors followed by et al. for more than six authors.
Figures & Tables Figures must be uploaded separately from the manuscript, while tables may be included in the manuscript or submitted as separate files. Figures must not be pasted into the manuscript, and tables must be submitted in editable format rather than as images.
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Recent Publications

Genetic Polymorphisms of Transforming Growth Factor Receptors (TGF-βRI, TGF-βRII) and Risk Factors Associated with Keloid Scars in Burkina Faso: A Cross-Sectional Study

Koffi Agbessi Keto, Danielle Belemsigri, Serge Soubeiga, Marcelin Bonkoungou, Hadiaratou Nafore Badiala Gadiaga, Bibata Compaore, Pegdwinde Abel Sorgho, Albert Theophane Yonli, Wendkuuni Florencia Djigma, Jacques Simpore, Pascal Niamba

10.2147/tacg.s602982
View Publication

Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder

Mateusz Górecki, Ilona Jaszczuk, Monika Lejman

10.2147/tacg.s549665
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Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study

D Claire Miller, Devika Chawla, Summer Pierson, Katherine Johansen Taber

10.2147/tacg.s591410
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Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates

Trinh The Son, Sang Tien, Tran Khoa, Hung Ho, Hien Thi Thu, Nhat Nguyen, Dang Son, Phong Van, Minh Pham, Hang Doan

10.2147/tacg.s599716
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Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) – Case Study

Emilia Duchnowska, Bożena Kosztyła-Hojna, Maciej Zdrojkowski, Sarah Burton-Jones, Wojciech Kułak

10.2147/tacg.s574913
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Frequently asked questions

How long does it take to publish?

Authors must submit proof corrections within 72 hours to support speedy publication.

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Is a cover letter required?

A point-by-point covering letter is required when submitting a revised manuscript after editorial review.

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What are the publication costs?

Invited reviews are exempt from paying any publication processing fee.

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Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases Congenital heart defects research BRCA gene mutations in cancer Metabolism and Genetic Disorders Genetics and Neurodevelopmental Disorders Lysosomal Storage Disorders Research Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Connective tissue disorders research Mitochondrial Function and Pathology Genetic factors in colorectal cancer Immunodeficiency and Autoimmune Disorders Sexual Differentiation and Disorders Folate and B Vitamins Research Hemoglobinopathies and Related Disorders Blood Coagulation and Thrombosis Mechanisms Genetic Syndromes and Imprinting Diet and metabolism studies Neurogenetic and Muscular Disorders Research Autism Spectrum Disorder Research Chronic Obstructive Pulmonary Disease (COPD) Research Genetic Associations and Epidemiology Lipoproteins and Cardiovascular Health Ion channel regulation and function

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