Search Results - "Rubin AF"

VEFill: accurate and generalizable deep mutational scanning score imputation across protein domains.

Authors: Polunina PV Maier W Rubin AF

Source: Molecular systems biology [Mol Syst Biol] 2026 Jun; Vol. 22 (6), pp. 979-1002. Date of Electronic Publication: 2026 Mar 20.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101235389 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4292 (Electronic) Linking ISSN: 17444292 NLM ISO Abbreviation: Mol Syst Biol Subsets: MEDLINE

Variant scoring tools for deep mutational scanning.

Authors: Çubuk H Jin X Phipson B et al.

Source: Molecular systems biology [Mol Syst Biol] 2025 Oct; Vol. 21 (10), pp. 1293-1305. Date of Electronic Publication: 2025 Aug 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101235389 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4292 (Electronic) Linking ISSN: 17444292 NLM ISO Abbreviation: Mol Syst Biol Subsets: MEDLINE

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

Authors: Pendyala S Partington K Bradley N et al.

Source: Cell [Cell] 2026 Jun 25; Vol. 189 (13), pp. 4040-4058.e31. Date of Electronic Publication: 2026 May 12.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Evidence for G6PD variant classification from multiplexed functional assays.

Authors: Geck RC Wheelock MK Powell RL et al.

Source: Genome biology [Genome Biol] 2026 Jun 04. Date of Electronic Publication: 2026 Jun 04.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

CountESS: a flexible, graphical pipeline tool for deep mutational scanning analysis.

Authors: Moore N Sargeant CJ Wakefield MJ et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Apr 30. Date of Electronic Publication: 2026 Apr 30.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

ClinGen API platform for classification of human genetic variants.

Authors: Shah N Farris T Zuniga AA et al.

Source: Cell genomics [Cell Genom] 2026 Apr 08; Vol. 6 (4), pp. 101211.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE

Mapping MAVE data for use in human genomics applications.

Authors: Arbesfeld JA Da EY Stevenson JS et al.

Source: Genome biology [Genome Biol] 2025 Jun 25; Vol. 26 (1), pp. 179. Date of Electronic Publication: 2025 Jun 25.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Guidelines for releasing a variant effect predictor.

Authors: Livesey BJ Badonyi M Dias M et al.

Source: Genome biology [Genome Biol] 2025 Apr 15; Vol. 26 (1), pp. 97. Date of Electronic Publication: 2025 Apr 15.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

A scalable approach to resolving variants of uncertain significance.

Authors: Tejura M Chen Y McEwen AE et al.

Corporate Authors: Tejura M Chen Y McEwen AE et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 23. Date of Electronic Publication: 2026 Feb 23.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.

Authors: Rubin AF Stone J Bianchi AH et al.

Source: Genome biology [Genome Biol] 2025 Jan 21; Vol. 26 (1), pp. 13. Date of Electronic Publication: 2025 Jan 21.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

Deep mutational scanning of CYP2C19 in human cells reveals a substrate specificity-abundance tradeoff.

Authors: Boyle GE Sitko KA Galloway JG et al.

Source: Genetics [Genetics] 2024 Nov 06; Vol. 228 (3).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Evidence for G6PD variant classification from multiplexed functional assays.

Authors: Geck RC Wheelock MK Powell RL et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Nov 22. Date of Electronic Publication: 2025 Nov 22.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

MaveMD: A functional data resource for genomic medicine.

Authors: McEwen AE Stone J Tejura M et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Nov 19. Date of Electronic Publication: 2025 Nov 19.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.

Authors: Popp NA Powell RL Wheelock MK et al.

Source: Nature structural & molecular biology [Nat Struct Mol Biol] 2025 Oct; Vol. 32 (10), pp. 2099-2111. Date of Electronic Publication: 2025 Jun 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101186374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-9985 (Electronic) Linking ISSN: 15459985 NLM ISO Abbreviation: Nat Struct Mol Biol Subsets: MEDLINE

A new way of looking at transcription factor assays.

Authors: Rubin AF; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia. alan.rubin@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia. alan.rubin@wehi.edu.au.

Source: Molecular systems biology [Mol Syst Biol] 2024 Jul; Vol. 20 (7), pp. 741-743. Date of Electronic Publication: 2024 Jun 07.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101235389 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-4292 (Electronic) Linking ISSN: 17444292 NLM ISO Abbreviation: Mol Syst Biol Subsets: MEDLINE

Minimum information and guidelines for reporting a multiplexed assay of variant effect.

Authors: Claussnitzer M Parikh VN Wagner AH et al.

Source: Genome biology [Genome Biol] 2024 Apr 19; Vol. 25 (1), pp. 100. Date of Electronic Publication: 2024 Apr 19.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE

VEFill: a model for accurate and generalizable deep mutational scanning score imputation across protein domains.

Authors: Polunina PV Maier W Rubin AF

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Aug 14. Date of Electronic Publication: 2025 Aug 14.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects.

Authors: Pendyala S Partington K Bradley N et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Jul 05. Date of Electronic Publication: 2025 Jul 05.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.

Authors: Park MS Kumar RD Ovadiuc C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Jun 05; Vol. 112 (6), pp. 1468-1478.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Consultation informs strategies for improving the use of functional evidence in variant classification.

Authors: Villani RM Terrill B Tudini E et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Jun 05; Vol. 112 (6), pp. 1489-1495.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE