The journal publishes research on the genetic basis of human diseases and traits. This includes studies on rare genetic conditions, hereditary cancer risk, and complex traits like hyperlipidemia and neurodevelopmental disorders. The research utilizes various genomic technologies, including whole-genome sequencing, exome sequencing, and genome-wide association studies, to identify pathogenic variants and understand their functional impact. Studies also investigate the genetic architecture across diverse populations and the role of regulatory elements in human evolution and disease.
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Publication & Citation Trend
Articles published
Times cited
2020
2021
2022
2023
2024
2025
2026
Source: OpenAlex · Note: citations accumulate over time so older years appear higher
SJR Quartile by Discipline
Scimago ranks this journal separately in each subject category — its quartile can differ by discipline.
Genetics (clinical)Q1
Molecular MedicineQ1
Subject Classification
Web of Science Categories
Genetics & Heredity
Scopus Categories
Genetics (clinical)Molecular Medicine
Research Topics (OpenAlex)
Genomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalitiesBRCA gene mutations in cancerRNA modifications and cancerEpigenetics and DNA MethylationGenetics and Neurodevelopmental DisordersCongenital heart defects researchRNA Research and SplicingBioinformatics and Genomic Networks