Artificial intelligence in molecular medicine
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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 …
An evidence‐based framework for evaluating pharmacogenomics knowledge for personalized medicine
M Whirl‐Carrillo, R Huddart, L Gong… - Clinical …, 2021 - Wiley Online Library
Clinical annotations are one of the most popular resources available on the
Pharmacogenomics Knowledgebase (PharmGKB). Each clinical annotation summarizes the …
Pharmacogenomics Knowledgebase (PharmGKB). Each clinical annotation summarizes the …
Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
[HTML][HTML] Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
Purpose We conducted a systematic literature review to summarize the current health
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
Towards precision medicine
EA Ashley - Nature Reviews Genetics, 2016 - nature.com
There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
Advancements in next-generation sequencing
The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …
way to describe highly parallel or high-output sequencing methods that produce data at or …
Big data analytics in healthcare
A Belle, R Thiagarajan… - BioMed research …, 2015 - Wiley Online Library
The rapidly expanding field of big data analytics has started to play a pivotal role in the
evolution of healthcare practices and research. It has provided tools to accumulate, manage …
evolution of healthcare practices and research. It has provided tools to accumulate, manage …