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 …
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …
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 …
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 …
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 …
and monogenic disease, and increasingly also in complex trait disease, with applications …
CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation
P Katsonis, O Lichtarge - Human mutation, 2019 - Wiley Online Library
Many computational approaches estimate the effect of coding variants, but their predictions
often disagree with each other. These contradictions confound users and raise questions …
often disagree with each other. These contradictions confound users and raise questions …
Technology platforms and approaches for building and evaluating machine learning methods in Healthcare
SD Mooney - The journal of applied laboratory medicine, 2023 - academic.oup.com
Background Artificial intelligence (AI) methods are becoming increasingly commonly
implemented in healthcare as decision support, business intelligence tools, or, in some …
implemented in healthcare as decision support, business intelligence tools, or, in some …
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 …
state-of-the-art for computational prediction of genetic variant impact, particularly where …
The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients
Computational methods for identifying gene–disease associations can use both genomic
and phenotypic information to prioritize genes and variants that may be associated with …
and phenotypic information to prioritize genes and variants that may be associated with …
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical …
Precise identification of causative variants from whole‐genome sequencing data, including
both coding and noncoding variants, is challenging. The Critical Assessment of Genome …
both coding and noncoding variants, is challenging. The Critical Assessment of Genome …