Author

Alexandra Martins

InsermORCID 0000-0003-4322-8497Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Research Focus:variant effect prediction· 4 Organism:human· 3 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Thomas van Overeem HanseniD· 3 shared Amanda B. SpurdleiD· 2 shared Andreas LaneriD· 2 shared Bryony A. ThompsoniD· 2 shared Carli M.J. TopsiD· 2 shared Claude HoudayeriD· 2 shared Elisabet OgnedaliD· 2 shared Ester Borràs· 2 shared

Activity by Year

2024-2024 · peak 4/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Thomas van Overeem HansenORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 13, 2024

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

104 citationstop 1%

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintMay 13, 2024

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin…·Andreas Laner

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

7 citations

statistical modelvariant effect prediction

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Genetic & Genomic MedicinemedRxivPreprintMay 3, 2024

Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

Xiaoyu Yin, Marcy E. Richardson, Andreas Laner…·Stefan Aretz

DOI 10.1101/2024.05.03.24306761

humanstatistical model

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BioinformaticsHuman GeneticsPeer-reviewedJan 3, 2024

Predicting the impact of rare variants on RNA splicing in CAGI6

Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai…·Diana Baralle

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

11 citations

humanwhole-exome sequencing

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