Characterisation of a Portuguese origin founder missense variant in MSH6
Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, et al. How should we test…
Translating genomic data into healthcare practice with the Singapore National Precision Medicine program
Precision Health Research, Singapore (PRECISE), Singapore, Singapore Shih Wee Seow, Clement Qiwen Sin, Denise Xin Yi Chua, Emily Shu Fang Lau, Gloria…
The PRECISE European initiative for cancer-vulnerability mapping and prediction
Evangelia Petsalaki Present address: Oncology Data Science, GSK, Stevenage, UK These authors contributed equally: Francesco Iorio, Mathew J.…
Non-coding DNA dynamics and its roles as a physical barrier in genome safeguarding across early development and evolution
Aburomia R, Khaner O, Sidow A (2003) Functional evolution in the ancestral lineage of vertebrates or when genomic…
How parents decide whether to have genomic newborn screening: experiences from BabyScreen+
ParticipantsParticipation in BabyScreen+ and gNBS A total of 1139 participants consented to BabyScreen+ research, regardless of whether they…
The promise of adaptive health in the United Arab Emirates and beyond
Department of Medicine, Johns Hopkins University, Baltimore, MD, USA Andrew P. Feinberg Department of Biomedical Engineering, Johns Hopkins…
Pleiotropic effects of cis-regulatory mutations
Wray, G. A. The evolutionary significance of cis-regulatory mutations. Nat. Rev. Genet. 8, 206–216 (2007). Article CAS PubMed …
A multi-dimensional framework for establishing and managing a genomic newborn screening program
The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…
Bridging behaviour and genomics for tsetse fly control
Tsetse flies (genus Glossina) are the sole biological vectors of African trypanosomes, a group of protozoan parasites that…
Benchmarking deep learning methods for biologically conserved single-cell integration | Genome Biology
A unified benchmarking framework for single-cell integration To systematically evaluate various loss functions, we established a unified benchmarking…
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases
Seven patients (6 males and 1 female) presented with ten episodes of acute encephalopathy, and cerebral edema was…
Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study | Orphanet Journal of Rare Diseases
Patient characteristics Overall, 626 people living with achondroplasia were matched with 3,130 people in the control cohort (Fig. 1).…