Author

Ricardo Garcia Branco

Cambridge University Hospitals NHS Foundation TrustORCID 0000-0002-2475-7951Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Andrew R. WebsteriD· 1 shared Christopher J. PenkettiD· 1 shared Courtney E. FrenchiD· 1 shared Detelina GrozevaiD· 1 shared Eleanor F. Dewhurst· 1 shared Frances Lucy RaymondiD· 1 shared Gavin ArnoiD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

GenomicsGenome MedicinePeer-reviewedDec 1, 2018

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

Alba Sanchis‐Juan, Jonathan C. Stephens, Courtney E. French…·Keren Carss

The paper identifies complex structural variants in Mendelian disorders using short-read and long-read sequencing, showing their clinical significance and the utility of long-read technology for resolution.

174 citationstop 1%

humanwhole-genome sequencing

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