In one paragraphArticle in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registryThe trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
13 authors.
Timothy BergquistInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-5614-8977 Sarah L StentonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0003-4071-449X Emily A W NadeauDepartment of Medicine and University of Vermont Cancer Center, University of Vermont, Larner College of Medicine, Burlington, VT 05405, USA.ORCID 0000-0002-7711-0342 Alicia B ByrneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-8141-1818 Marc S GreenblattDepartment of Medicine and University of Vermont Cancer Center, University of Vermont, Larner College of Medicine, Burlington, VT 05405, USA.ORCID 0000-0002-1729-8355 Steven M HarrisonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0002-9614-9111 Sean V TavtigianDepartment of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.ORCID 0000-0002-7543-8221 Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.ORCID 0000-0001-6418-9592 Leslie G BieseckerCenter for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Predrag RadivojacKhoury College of Computer Sciences, Northeastern University, Boston, MA 02115, USA.ORCID 0000-0002-6769-0793 Steven E BrennerDepartment of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA 94720, USA.ORCID 0000-0001-7559-6185 Vikas PejaverInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-1943-0284 ClinGen Sequence Variant Interpretation Working Group
Funding
Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4MBaylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)U24HG009649 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI TERI Ellen KLEIN, Aleksandar Milosavljevic · 2021 to 2026
$31.5MThe Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0MClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7MBroad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6MSupporting IGVF by modeling genetics, function, and phenotype with machine learningU01HG012022 · NHGRI · NORTHEASTERN UNIVERSITY · PI Predrag Radivojac · 2021 to 2026
$3.4MCOVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0MBig Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0MSystematic integration of variant interpretation tools into genetic and genomic risk predictionR01HG013350 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Vikas Rao Pejaver · 2024 to 2026
$1.7MIntegrative data science approaches for rare disease discovery in health recordsR00LM012992 · NLM · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI PEJAVER, VIKAS RAO · 2022 to 2024
$709kNCATS NIH HHS UL1 TR004419NHGRI NIH HHS R01 HG013350NHGRI NIH HHS U01 HG011755NHGRI NIH HHS U01 HG012022NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24 HG009649NHGRI NIH HHS U24 HG009650NIH HHS S10 OD026880NIH HHS S10 OD030463NLM NIH HHS R00 LM012992
6 · The paper itselfAbstract
Purpose: We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to Method: Using our local posterior probability-based calibration and our established data set of ClinVar pathogenic and benign variants, we determined the strength of evidence provided by three new tools (AlphaMissense, ESM1b, VARITY) and calibrated scores meeting each evidence strength. Results: All three tools reached the Conclusion: At calibrated thresholds, three new computational predictors provided evidence for variant pathogenicity at similar strength to the four previously recommended predictors (and comparable with functional assays for some variants). This calibration broadens the scope of computational tools for application in clinical variant classification. Their new approaches offer promise for future advancement of the field.
Indexed as
ACMG/AMPAlphaMissensecalibrationclinical variant classificationESM1bPP3/BP4VARITY
Identifiers
PMID39345488
PMCPMC11429929
What Socratic holds
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