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The Deciphering Developmental Disorders Study

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Genomics· 1

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

Frequent Co-Authors

Alejandro SifrimiD· 1 shared Daniel A King· 1 shared Emma Hobson· 1 shared Matthew E. HurlesiD· 1 shared Mohammed Shehla· 1 shared Pradeep C. VasudevaniD· 1 shared Raheleh RahbariiD· 1 shared Sahar MansouriD· 1 shared

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2017-2017 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Alejandro SifrimORCID

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1 paper

Recent·Most cited

Detection of structural mosaicism from targeted and whole-genome sequencing data

Daniel A King, Alejandro Sifrim, Tomas W. Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju G. Mehta, Mohammed Shehla, Susan E. Tomkins, Pradeep C. Vasudevan, Matthew E. Hurles, The Deciphering Developmental Disorders Study

The paper introduces MrMosaic, a method to detect structural mosaicism using sequencing data, finding that blood-only testing misses over 50% of mosaic rearrangements.

Genome Research · Aug 30, 2017Peer-reviewedGenomics