Author

Isaac Garcia Salinas

Wellcome Sanger Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aylwyn ScallyiD· 1 shared Helen V. FirthiD· 1 shared Hyunchul JungiD· 1 shared Matthew D. C. NevilleiD· 1 shared Matthew E. HurlesiD· 1 shared Peter J. CampbelliD· 1 shared Petr DanecekiD· 1 shared Raheleh RahbariiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Aylwyn ScallyORCID

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1 paper

Recent·Most cited

Deciphering the role of germline complex de novo structural variations in rare disorders

Hyunchul Jung, Tsun-Po Yang, Susan Walker, Petr Danecek, Isaac Garcia Salinas, Matthew D. C. Neville, Helen V. Firth, Aylwyn Scally, Matthew E. Hurles, Peter J. Campbell, Raheleh Rahbari

This study identifies de novo structural variants in a large cohort of rare disease patients, highlighting their prevalence and potential pathogenicity.

bioRxiv · Apr 3, 2024 · PreprintGenomics