Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
J Xu, P Yang, S Xue, B Sharma, M Sanchez-Martin… - Human genetics, 2019 - Springer
In the field of cancer genomics, the broad availability of genetic information offered by next-
generation sequencing technologies and rapid growth in biomedical publication has led to …
generation sequencing technologies and rapid growth in biomedical publication has led to …
Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
[HTML][HTML] Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
Interpretation of the colossal number of genetic variants identified from sequencing
applications is one of the major bottlenecks in clinical genetics, with the inference of the …
applications is one of the major bottlenecks in clinical genetics, with the inference of the …
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early‐onset
muscle disease, caused by disease‐associated variants in the laminin‐α2 (LAMA2) gene …
muscle disease, caused by disease‐associated variants in the laminin‐α2 (LAMA2) gene …
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
S Jain, C Bakolitsa, SE Brenner, P Radivojac… - Genome …, 2024 - lirias.kuleuven.be
Abstract Background: The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …
advance the state-of-the-art for computational prediction of genetic variant impact …
Crowdsourcing assessment of maternal blood multi-omics for predicting gestational age and preterm birth
Identification of pregnancies at risk of preterm birth (PTB), the leading cause of newborn
deaths, remains challenging given the syndromic nature of the disease. We report a …
deaths, remains challenging given the syndromic nature of the disease. We report a …
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome biology, 2024 - Springer
Abstract Background The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …
advance the state-of-the-art for computational prediction of genetic variant impact …
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
The X‐linked NLGN3 gene, encoding a postsynaptic cell adhesion molecule, was involved
in a nonsyndromic monogenic form of autism spectrum disorder (ASD) by the description of …
in a nonsyndromic monogenic form of autism spectrum disorder (ASD) by the description of …
A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer
Studies continue to uncover contributing risk factors for breast cancer (BC) development
including genetic variants. Advances in machine learning and big data generated from …
including genetic variants. Advances in machine learning and big data generated from …