Publications
Filters: Keyword is Genome, Human [Clear All Filters]
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 ;12(12):1846-53.
. A haplotype map of the human genome. Nature. 2005 ;437(7063):1299-320.
Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2022 ;43(8):1114-1121.
. High-depth African genomes inform human migration and health. Nature. 2020 ;586(7831):741-748.
. Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 ;15(2):269-75.
. A high-resolution map of human chromosome 12. Nature. 2001 ;409(6822):945-6.
. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 ;478(7370):476-82.
. High-throughput gene expression profiling--a work-in-progress with great potential for proteomics. Curr Opin Drug Discov Devel. 2006 ;9(3):332-8.
. Human genetics. Primate shadow play. Science. 2003 ;299(5611):1331-3.
. The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003 ;68:13-22.
. The Human Genome Project changed everything. Nat Rev Genet. 2020 ;21(10):575-576.
. Human genome sequencing in health and disease. Annu Rev Med. 2012 ;63:35-61.
. Human-specific changes of genome structure detected by genomic triangulation. Science. 2007 ;316(5822):235-7.
. A hybrid computational strategy to address WGS variant analysis in >5000 samples. BMC Bioinformatics. 2016 ;17(1):361.
. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 1992 ;13(4):957-61.
. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 ;9(1):83.
. Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 ;17(10):831-5.
. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 ;420(6915):520-62.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 ;497(7447):67-73.
. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 ;491(7422):56-65.
. Integrating common and rare genetic variation in diverse human populations. Nature. 2010 ;467(7311):52-8.
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