A review of feature selection methods for machine learning-based disease risk prediction
N Pudjihartono, T Fadason, AW Kempa-Liehr… - Frontiers in …, 2022 - frontiersin.org
Machine learning has shown utility in detecting patterns within large, unstructured, and
complex datasets. One of the promising applications of machine learning is in precision …
complex datasets. One of the promising applications of machine learning is in precision …
Artificial intelligence in molecular medicine
Artificial Intelligence in Molecular Medicine | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …
content The New England Journal of Medicine homepage Advanced Search SEARCH …
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 …
Integrative omics for health and disease
KJ Karczewski, MP Snyder - Nature Reviews Genetics, 2018 - nature.com
Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …
The GenomeAsia 100K Project enables genetic discoveries across Asia
Nature, 2019 - nature.com
The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …
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 …
Next-generation sequencing in oncology: genetic diagnosis, risk prediction and cancer classification
R Kamps, RD Brandão, BJ van den Bosch… - International journal of …, 2017 - mdpi.com
Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …
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 …
Predicting functional effect of human missense mutations using PolyPhen‐2
I Adzhubei, DM Jordan… - Current protocols in …, 2013 - Wiley Online Library
Abstract PolyPhen‐2 (Polymorphism Phenotyping v2), available as software and via a Web
server, predicts the possible impact of amino acid substitutions on the stability and function …
server, predicts the possible impact of amino acid substitutions on the stability and function …