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npj Genomic Medicine is a peer-reviewed journal published by Springer Nature, covering Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genomic variations and chromosomal abnormalities. Over its lifetime it has published 626 papers, which have received 16,878 citations.
| Publisher | Springer Nature |
|---|---|
| Reference style | Superscript numbered (Nature) Superscript — small raised numerals in the text 1. Smith, A., Jones, B. & Lee, C. A representative article title. npj Genomic Medicine 12, 45–58 (2023).
Formats any DOI in npj Genomic Medicine style. No sign-up. |
| Publishes research in | Genomics and Rare Diseases Cancer Genomics and Diagnostics Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genetic factors in colorectal cancer |
| ISSN | 2056-7944 |
| Citation impact (2-yr) | 4.96 |
| h-index | 62 |
| i10-index | 366 |
| Article processing charge | $3,490 |
| Open access | Yes — indexed in DOAJ |
| Top institutions publishing here | University of Toronto |
| Journal website | www.nature.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.
Abstract Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. We report a retrospective cohort study of acutely ill inpatient infants in a regional children’s hospital…
The standard of care for first-tier clinical investigation of the etiology of congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy number variations (CNVs), often followed by gene(s)-specific sequencing searching for smaller insertion-deletions (indels) and single nucleotide variant (SNV) mutations. Whole genome sequencing (WGS) has the potential to capture all classes of…
Abstract Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK…
Personalized medical care focuses on prediction of disease risk and response to medications. To build the risk models, access to both large-scale genomic resources and human genetic studies is required. The Taiwan Biobank (TWB) has generated high-coverage, whole-genome sequencing data from 1492 individuals and genome-wide SNP data from 103,106 individuals of Han Chinese ancestry using…
Abstract De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. Here, we performed whole-genome sequencing (WGS) of 200 ASD parent–child trios and characterised germline and somatic DNMs. We confirmed that the majority of germline DNMs (75.6%) originated from…
