Genomic newborn screening for rare diseases
Z Stark, RH Scott - Nature Reviews Genetics, 2023 - nature.com
Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Tabllm: Few-shot classification of tabular data with large language models
We study the application of large language models to zero-shot and few-shot classification
of tabular data. We prompt the large language model with a serialization of the tabular data …
of tabular data. We prompt the large language model with a serialization of the tabular data …
Artificial intelligence for drug discovery: Are we there yet?
Drug discovery is adapting to novel technologies such as data science, informatics, and
artificial intelligence (AI) to accelerate effective treatment development while reducing costs …
artificial intelligence (AI) to accelerate effective treatment development while reducing costs …
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …
biomedical advances by enabling the responsible sharing of clinical and genomic data …
A roadmap for the human developmental cell atlas
Abstract The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human
Cell Atlas, aims to create a comprehensive reference map of cells during development. This …
Cell Atlas, aims to create a comprehensive reference map of cells during development. This …
Therapies for rare diseases: therapeutic modalities, progress and challenges ahead
E Tambuyzer, B Vandendriessche, CP Austin… - Nature Reviews Drug …, 2020 - nature.com
Most rare diseases still lack approved treatments despite major advances in research
providing the tools to understand their molecular basis, as well as legislation providing …
providing the tools to understand their molecular basis, as well as legislation providing …
Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
The GA4GH Phenopacket schema defines a computable representation of clinical data
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
The national economic burden of rare disease in the United States in 2019
Background To provide a comprehensive assessment of the total economic burden of rare
diseases (RD) in the United States (US) in 2019. We followed a prevalence-based approach …
diseases (RD) in the United States (US) in 2019. We followed a prevalence-based approach …