Category: 2024

Improving transparency of computational tools for variant effect prediction I

Karchin R, Radivojac P, O’Donnell-Luria A, Greenblatt MS, Tolstorukov MY, Sonkin D. Improving transparency of computational tools for variant effect prediction. Nat Genet. 2024 Jul 2. doi: 10.1038/s41588-024-01821-8. Epub ahead of print. PMID: 38956207.

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Assessing the merits: an opinion on the effectiveness of simulation techniques in tumor subclonal reconstruction A

Lai J, Yang Y, Liu Y, Scharpf RB, Karchin R. Assessing the merits: an opinion on the effectiveness of simulation techniques in tumor subclonal reconstruction. Bioinformatics Advances, 2024 June. doi: 10.1093/bioadv/vbae094. PMID: 38948008; PMCID: PMC11213631.

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3D genomic mapping reveals multifocality of human pancreatic precancers 3

Braxton AM, Kiemen AL, Grahn MP, Forjaz A, Parksong J, Mahesh Babu J, Lai J, Zheng L, Niknafs N, Jiang L, Cheng H, Song Q, Reichel R, Graham S, Damanakis AI, Fischer CG, Mou S, Metz C, Granger J, Liu XD, Bachmann N, Zhu Y, Liu Y, Almagro-Pérez C, Jiang AC, Yoo J, Kim B, …

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CAGI, the critical assessment of genome interpretation, establishes progress and prospects for computational genetic variant interpretation methods. C

The Critical Assessment of Genome Interpretation Consortium. CAGI, the critical assessment of genome interpretation, establishes progress and prospects for computational genetic variant interpretation methods. Genome Biology 2024 25(1):53. PMID: 38389099 PMCID: PMC10882881

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