human genetics - New Zealand News Beep

Translating genomic data into healthcare practice with the Singapore National Precision Medicine program

July 29, 2026

Precision Health Research, Singapore (PRECISE), Singapore, Singapore Shih Wee Seow, Clement Qiwen Sin, Denise Xin Yi Chua, Emily Shu Fang Lau, Gloria…

HHealth

The PRECISE European initiative for cancer-vulnerability mapping and prediction

July 10, 2026

Evangelia Petsalaki Present address: Oncology Data Science, GSK, Stevenage, UK These authors contributed equally: Francesco Iorio, Mathew J.…

SScience

Non-coding DNA dynamics and its roles as a physical barrier in genome safeguarding across early development and evolution

July 5, 2026

Aburomia R, Khaner O, Sidow A (2003) Functional evolution in the ancestral lineage of vertebrates or when genomic…

SScience

How parents decide whether to have genomic newborn screening: experiences from BabyScreen+

June 27, 2026

ParticipantsParticipation in BabyScreen+ and gNBS A total of 1139 participants consented to BabyScreen+ research, regardless of whether they…

HHealthcare

The promise of adaptive health in the United Arab Emirates and beyond

June 5, 2026

Department of Medicine, Johns Hopkins University, Baltimore, MD, USA Andrew P. Feinberg Department of Biomedical Engineering, Johns Hopkins…

SScience

Pleiotropic effects of cis-regulatory mutations

May 29, 2026

Wray, G. A. The evolutionary significance of cis-regulatory mutations. Nat. Rev. Genet. 8, 206–216 (2007). Article CAS PubMed …

HHealth

A multi-dimensional framework for establishing and managing a genomic newborn screening program

March 1, 2026

The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…

SScience

Bridging behaviour and genomics for tsetse fly control

January 29, 2026

Tsetse flies (genus Glossina) are the sole biological vectors of African trypanosomes, a group of protozoan parasites that…

SScience

Benchmarking deep learning methods for biologically conserved single-cell integration | Genome Biology

November 20, 2025

A unified benchmarking framework for single-cell integration To systematically evaluate various loss functions, we established a unified benchmarking…

HHealth

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases

November 19, 2025

Seven patients (6 males and 1 female) presented with ten episodes of acute encephalopathy, and cerebral edema was…

HHealth

Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study | Orphanet Journal of Rare Diseases

November 5, 2025

Patient characteristics Overall, 626 people living with achondroplasia were matched with 3,130 people in the control cohort (Fig. 1).…

HHealth

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases

October 27, 2025

We identified 98 individuals with pathogenic or likely pathogenic GRIN2B variants from 23 publications [11, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, we…