Publications
The complete sequence of a human genome. Science. 2022 ;376(6588):44-53.
. Cultivating DNA Sequencing Technology After the Human Genome Project. Annu Rev Genomics Hum Genet. 2020 ;21:117-138.
. The Human Genome Project changed everything. Nat Rev Genet. 2020 ;21(10):575-576.
. Complexity and diversity of F8 genetic variations in the 1000 genomes. J Thromb Haemost. 2015 ;13(11):2031-40.
. The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes. BMC Genomics. 2015 ;16(1):143.
. Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 ;11(2):261-9.
. An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data. Genome Res. 2013 ;23(5):833-42.
. Human genome sequencing in health and disease. Annu Rev Med. 2012 ;63:35-61.
. Genome-sequencing anniversary. Bringing genomics and genetics back together. Science. 2011 ;331(6017):548.
. The promise of a personalized genomic approach to pancreatic cancer and why targeted therapies have missed the mark. World J Surg. 2011 ;35(8):1766-9.
. Integrating common and rare genetic variation in diverse human populations. Nature. 2010 ;467(7311):52-8.
. Prepublication data sharing. Nature. 2009 ;461(7261):168-70.
. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res. 2007 ;17(6):760-74.
. ENCODE: more genomic empowerment. Genome Res. 2007 ;17(6):667-8.
. The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 ;440(7088):1194-8.
. Finishing the euchromatic sequence of the human genome. Nature. 2004 ;431(7011):931-45.
The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003 ;68:13-22.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. WebWise: guide to the Baylor College of Medicine Human Genome Sequencing Center's web site. Genome Res. 1998 ;8(3):170-4.
. Hares and tortoises in the race to sequence the human genome: expectations and realities. Trends Genet. 1997 ;13(10):381-3.
. Pressing ahead with human genome sequencing. Nat Genet. 1995 ;11(2):121-5.
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