Lindsay Smith

The evolution of health data ecosystems: An international survey

Jordan Lerner‐Ellis, E. Magda Price, Shehryar Subhani, Tiffany Boughtwood et autres

ca, au, gb, us, sg, nz, sa, ch, se, it, fr, Afrique du Sud, fi (code pays fourni par la source)

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama et autres

Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to the emergence of precision therapies. However, there remains significant effort ahead to ensure the promise of precision medicine translates to improved outcomes. Here, we discuss the challenges in …

au, gb, us, ca (code pays fourni par la source)

Planetary health. A new social determinant of health and an avoidable health inequality

Lindsay Smith

au (code pays fourni par la source)

Equity, diversity, and inclusion at the Global Alliance for Genomics and Health

Neerjah Skantharajah, Shakuntala Baichoo, Tiffany Boughtwood, Esmeralda Casas-Silva et autres

A lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be …

ca, Maurice, au, us, in, qa, ve, gb, mx, nl (code pays fourni par la source)

Supplementary Data from Preclinical Evaluation of a Novel SHIP1 Phosphatase Activator for Inhibition of PI3K Signaling in Malignant B Cells

Elizabeth Lemm, Beatriz Valle‐Argos, Lindsay Smith, Johanna Richter et autres

Supplementary data

Supplementary Data from Preclinical Evaluation of a Novel SHIP1 Phosphatase Activator for Inhibition of PI3K Signaling in Malignant B Cells

Elizabeth Lemm, Beatriz Valle‐Argos, Lindsay Smith, Johanna Richter et autres

Supplementary data

GA4GH Phenopackets: A Practical Introduction

Markus S. Ladewig, Julius O.B. Jacobsen, Alex H. Wagner, Daniel Daniš et autres

The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed …

de, gb, us, ru, ch, il, ca, au (code pays fourni par la source)

The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O.B. Jacobsen, Michael Baudis, Gareth Baynam, J. Beckmann et autres

gb, ch, au, es, us, ca, il, de, nl, fi, jp, sg, sa (code pays fourni par la source)

Characterization of metabolic alterations of chronic lymphocytic leukemia in the lymph node microenvironment

Zhenghao Chen, Helga Simon‐Molas, Gaspard Cretenet, Beatriz Valle‐Argos et autres

Altered metabolism is a hallmark of both cell division and cancer. Chronic lymphocytic leukemia (CLL) cells circulate between peripheral blood (PB) and lymph nodes (LNs), where they receive proliferative and prosurvival signals from surrounding cells. However, insight into the metabolism of LN …

nl, us, gb (code pays fourni par la source)

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

Julius O.B. Jacobsen, Michael Baudis, Gareth Baynam, J. Beckmann et autres

Abstract Despite great strides in the development and wide acceptance of standards for exchanging structured information about genomic variants, there is no corresponding standard for exchanging phenotypic data, and this has impeded the sharing of phenotypic information for computational analysis. Here, we …

gb, ch, au, us, es, il, nl, de, fi, jp (code pays fourni par la source)

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith, Jeremy Adams et autres

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular …

us, ca, ch, gb, es, au, qa, hk, cz, at, tw, sg, jp (code pays fourni par la source)

De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis

Lindsay Smith, Lacramioara Fabian, Almundher Al‐Maawali, Ramil R. Noche et autres

Phosphoinositides (PIPs) and their regulatory enzymes are key players in many cellular processes and are required for aspects of vertebrate development. Dysregulated PIP metabolism has been implicated in several human diseases, including a subset of skeletal myopathies that feature structural defects in …

ca, om (code pays fourni par la source)