Publications
A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 ;11(1):4794.
. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 ;177(1):32-37.
. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 ;11(1):80.
. Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 ;104(5):802-814.
. DNAism: exploring genomic datasets on the web with Horizon Charts. BMC Bioinformatics. 2016 ;17:49.
. The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. BMC Genomics. 2015 ;16(1):143.
. dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations. Hum Mutat. 2013 ;34(9):E2393-402.
. Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 ;4(11):903-5.
. Deeper into the genome. Nature. 2005 ;437(7063):1233-4.
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