Artificial intelligence in molecular medicine
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The expanding diagnostic toolbox for rare genetic diseases
KD Kernohan, KM Boycott - Nature Reviews Genetics, 2024 - nature.com
Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …
approaches, have revolutionized the care of patients with rare genetic diseases. However …
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
Bayesian estimation of gene constraint from an evolutionary model with gene features
Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations
Autosomal recessive coding variants are well-known causes of rare disorders. We quantified
the contribution of these variants to developmental disorders in a large, ancestrally diverse …
the contribution of these variants to developmental disorders in a large, ancestrally diverse …
Applications of artificial intelligence in clinical laboratory genomics
S Aradhya, FM Facio, H Metz, T Manders… - American Journal of …, 2023 - Wiley Online Library
The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …
Comprehensive noninvasive fetal screening by deep trio-exome sequencing
I Miceikaitė, Q Hao, C Brasch-Andersen… - … England Journal of …, 2023 - Mass Medical Soc
Deep Sequencing Cell-free DNA in a Prenatal Screen Exome sequencing of cell-free DNA
from noninvasively obtained samples from 36 pregnant women and their partners found …
from noninvasively obtained samples from 36 pregnant women and their partners found …
A call to action to scale up research and clinical genomic data sharing
Genomic data from millions of individuals have been generated worldwide to drive discovery
and clinical impact in precision medicine. Lowering the barriers to using these data …
and clinical impact in precision medicine. Lowering the barriers to using these data …
Newborn screening for neurodevelopmental disorders may exacerbate health disparities
SA Sobotka, LF Ross - Pediatrics, 2023 - publications.aap.org
Newborn screening (NBS) began in the early 1960s with screening for phenylketonuria on
blood collected on filter paper. The number of conditions included in NBS programs …
blood collected on filter paper. The number of conditions included in NBS programs …
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene
of interest. The resulting saturation-style functional data may help resolve variant …
of interest. The resulting saturation-style functional data may help resolve variant …