Author

Ida Paramonov

Barcelona Institute of Science and TechnologyORCID 0000-0001-8666-6054Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ivo Glynne GutiD· 2 shared Marc DabadiD· 2 shared Marta Ortova GutiD· 2 shared Adam JacksoniD· 1 shared Alberto Corvo· 1 shared Alexander HoischeniD· 1 shared Ana TöpfiD· 1 shared Anastasios PapakonstantinouiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ivo Glynne GutORCID

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2 papers

Recent·Most cited

Comprehensive reanalysis for CNVs in exome sequencing data from unsolved rare disease cases results in new diagnoses

German M. Demidov, Burcu Yaldiz, José Garcia‐Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti, Gemma Bullich, Karolis Sablauskas, Sergi Beltrán, Christian Gilissen, Alexander Hoischen, , Emanuele Raineri

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

npj Genomic Medicine · Oct 26, 2024Peer-reviewedGenetic & Genomic Medicine

Novel method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome

Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frías-López, Marc Dabad, Raúl Tonda, Ida Paramonov, Matthew Ingham, Isabelle Brun Heath, Jordi Leno-Colorado, Anna Abulí, Elena García‐Arumí, Simon Charles Heath, Marta Ortova Gut, Ivo Glynne Gut

This paper introduces a method to sequence full-length human mitochondrial genomes using Cas9 and long-read sequencing, enabling accurate detection of heteroplasmy and deletion patterns.

Nature Communications · Oct 6, 2022Peer-reviewedGenomics