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Human Genetics and Genomics Advances is a peer-reviewed journal published by Elsevier, covering Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities.
| Publisher | Elsevier |
|---|---|
| Reference style | Numbered (Elsevier) Numbered — [1], [2] in the text [1] A. Smith, B. Jones, C. Lee, A representative article title, Human Genetics and Genomics Advances 12 (2023) 45–58.
Formats any DOI in Human Genetics and Genomics Advances style. No sign-up. |
| Publishes research in | Genomics and Rare Diseases Genetic Associations and Epidemiology Genomic variations and chromosomal abnormalities BRCA gene mutations in cancer RNA modifications and cancer |
| ISSN | 2666-2477 |
| Citation impact (2-yr) | 2.02 |
| h-index | 27 |
| i10-index | 124 |
| Total citations | 3,957 |
| Article processing charge | $3,000 |
| Open access | Yes |
| Top institutions publishing here | University of Washington |
| Journal website | www.sciencedirect.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings…
The majority of polygenic risk scores (PRSs) have been developed and optimized in individuals of European ancestry and may have limited generalizability across other ancestral populations. Understanding aspects of PRSs that contribute to this issue and determining solutions is complicated by disease-specific genetic architecture and limited knowledge of sharing of causal variants and effect sizes…
KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in KIF1A, a gene that encodes an anterograde neuronal microtubule (MT) motor protein. Here we characterize the natural history of KAND in 117 individuals using a combination of caregiver or self-reported medical history, a standardized measure of adaptive behavior, clinical records,…
Publicly available genome-wide association studies (GWAS) summary statistics exhibit uneven quality, which can impact the validity of follow-up analyses. First, we present an overview of possible misspecifications that come with GWAS summary statistics. Then, in both simulations and real-data analyses, we show that additional information such as imputation INFO scores, allele frequencies, and per-variant sample…
Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and personalized preventive care, but they are clinically useful only if they can be translated into action. The risk information conveyed by a PRS must be contextualized to enable this. Best practices are evolving but are likely to involve integrating a PRS into…
