Author

Fernanda Mafra

Children's Hospital of PhiladelphiaORCID 0000-0002-3962-2873Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Bioinformatics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Charlly Kao· 1 shared Fang LiiD· 1 shared Hakon H. HakonarsoniD· 1 shared Kai WangiD· 1 shared Katharina WimmeriD· 1 shared Michael V. GonzaleziD· 1 shared Mingyao LiiD· 1 shared Renata Pellegrino da Silva· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperBioinformatics

Charlly Kao

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

Fang Li, Charlly Kao, Michael V. Gonzalez, Fernanda Mafra, Renata Pellegrino da Silva, Mingyao Li, Sören-Sebastian Wenzel, Katharina Wimmer, Hakon H. Hakonarson, Kai Wang

LinkedSV detects mosaic structural variants from linked-read sequencing data, outperforming existing tools and identifying SVs missed by conventional sequencing methods.

Nature Communications · Dec 6, 2019Peer-reviewedBioinformatics