- Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Am J Hum Genet 93:411-21. 2013
..Genome assembly efforts and future builds of the human genome reference will be strongly informed by this localization of genes and other euchromatic sequences that are embedded within highly repetitive pericentromeric regions. ..
- Improved IBD detection using incomplete haplotype information
Department of Mathematics, Dartmouth College, Hanover NH 03755, USA
BMC Genet 11:58. 2010
..The use of these platforms has enabled population-based genome-wide association studies. However, in inheritance-based studies, current methods do not take full advantage of the information present in such genotyping analyses...
- Using population admixture to help complete maps of the human genome
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
Nat Genet 45:406-14, 414e1-2. 2013
..We describe how knowledge of the locations of these sequences can inform disease association and genome biology studies...
- APOL1 variants and kidney disease in people of recent African ancestry
Stanley Center, Broad Institute, Cambridge, MA 02142, USA
Nat Rev Nephrol 9:240-4. 2013
..Although no biological evidence currently exists for the causality of APOL1 variants with kidney disease, our statistical reasoning provides a strong case for causality, and a region to target in future functional studies...
- Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection
Harvard Massachusetts Institute of Technology MIT Division of Health, Science and Technology, Cambridge, USA
Am J Hum Genet 89:368-81. 2011
..The most significantly differentiated marker in our analysis, rs2920283, is highly differentiated in both Africa and East Asia and has prior genome-wide significant associations to bladder and gastric cancers...
- Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion
Hakan R Toka
Division of Nephrology, Brigham and Women s Hospital, Boston, Massachusetts, United States of America Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, United States of America
PLoS ONE 8:e71885. 2013
..In the tested set of candidate genes, rare allelic variants do not appear to contribute significantly to differences in urinary calcium excretion between individuals...