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 …

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 …

[HTML][HTML] Deep learning and citizen science enable automated plant trait predictions from photographs

C Schiller, S Schmidtlein, C Boonman… - Scientific Reports, 2021 - nature.com
Abstract Plant functional traits ('traits') are essential for assessing biodiversity and ecosystem
processes, but cumbersome to measure. To facilitate trait measurements, we test if traits can …

Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation

G Andreoletti, LR Pal, J Moult, SE Brenner - Human mutation, 2019 - Wiley Online Library
Abstract Interpretation of genomic variation plays an essential role in the analysis of cancer
and monogenic disease, and increasingly also in complex trait disease, with applications …

Weakly-supervised transfer learning with application in precision medicine

L Mao, L Wang, LS Hu, JM Eschbacher… - IEEE Transactions …, 2023 - ieeexplore.ieee.org
Precision medicine aims to provide diagnosis and treatment accounting for individual
differences. To develop machine learning models in support of precision medicine …

Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for …

S Jain, C Bakolitsa, EB Steven, P Radivojac… - Genome …, 2024 - iris.uniroma1.it
Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the
state-of-the-art for computational prediction of genetic variant impact, particularly where …

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

MS Cline, G Babbi, S Bonache, Y Cao… - Human …, 2019 - Wiley Online Library
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has
emerged as a standard clinical practice and is hel** countless women better understand …

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

A Voskanian, P Katsonis, O Lichtarge… - Human …, 2019 - Wiley Online Library
The availability of disease‐specific genomic data is critical for develo** new
computational methods that predict the pathogenicity of human variants and advance the …

Bayesian modeling and uncertainty quantification for learning to optimize: What, why, and how

Y You, Y Cao, T Chen, Z Wang, Y Shen - International Conference on …, 2022 - par.nsf.gov
Optimizing an objective function with uncertainty awareness is well-known to improve the
accuracy and confidence of optimization solutions. Meanwhile, another relevant but very …

[ZITATION][C] Circumventing Drug Resistance by Molecular Design: Exact Combinatorial Optimization and Deep Generative Models

M Karimi - 2020