Author

Sahar Ghaffari

University of Oxford

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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Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Abhijit DixitiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alice GardhamiD· 1 shared Alison Stewart· 1 shared Andrea Hilary NemethiD· 1 shared Andrew O.M. WilkieiD· 1 shared Angela Bloss· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Abhijit DixitORCID

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1 paper

Recent·Most cited

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibault, Jonathan P. Williams, Edward M. Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie L.E. Canham, , Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

bioRxiv · Jul 26, 2022 · PreprintGenetics