Abigail W Bigham

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data
    Abigail Bigham
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, United States of America
    PLoS Genet 6:e1001116. 2010
  2. pmc Host genetic risk factors for West Nile virus infection and disease progression
    Abigail W Bigham
    Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
    PLoS ONE 6:e24745. 2011
  3. pmc Identifying positive selection candidate loci for high-altitude adaptation in Andean populations
    Abigail W Bigham
    Department of Pediatrics, The University of Washington, Seattle, WA 98195, USA
    Hum Genomics 4:79-90. 2009
  4. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
  5. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
  6. pmc Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans
    Abigail W Bigham
    Department of Anthropology, University of Michigan, Ann Arbor, MI Departments of Global Health Epidemiology Medicine, University of Washington, Seattle, WA Perinatal HIV Research Unit, University of Witwatersrand, Johannesburg, South Africa Department of Medicine, University of Manitoba, Winnipeg, Canada Department of Obstetrics and Gynaecology, University of Nairobi, Nairobi, Kenya Departments of Pediatrics Genome Sciences Laboratory Medicine, University of Washington, Seattle, WA and Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, WA
    J Acquir Immune Defic Syndr 66:127-34. 2014
  7. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
  8. doi Exome sequencing as a tool for Mendelian disease gene discovery
    Michael J Bamshad
    Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
    Nat Rev Genet 12:745-55. 2011
  9. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
  10. pmc Angiotensin-converting enzyme genotype and arterial oxygen saturation at high altitude in Peruvian Quechua
    Abigail W Bigham
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, USA
    High Alt Med Biol 9:167-78. 2008

Detail Information

Publications14

  1. pmc Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data
    Abigail Bigham
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, United States of America
    PLoS Genet 6:e1001116. 2010
    ....
  2. pmc Host genetic risk factors for West Nile virus infection and disease progression
    Abigail W Bigham
    Department of Pediatrics, University of Washington, Seattle, Washington, United States of America
    PLoS ONE 6:e24745. 2011
    ..Together, these results suggest that genetic variation in the interferon response pathway is associated with both risk for symptomatic WNV infection and WNV disease progression...
  3. pmc Identifying positive selection candidate loci for high-altitude adaptation in Andean populations
    Abigail W Bigham
    Department of Pediatrics, The University of Washington, Seattle, WA 98195, USA
    Hum Genomics 4:79-90. 2009
    ....
  4. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
    ..These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome...
  5. pmc Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:790-3. 2010
    ..Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome...
  6. pmc Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans
    Abigail W Bigham
    Department of Anthropology, University of Michigan, Ann Arbor, MI Departments of Global Health Epidemiology Medicine, University of Washington, Seattle, WA Perinatal HIV Research Unit, University of Witwatersrand, Johannesburg, South Africa Department of Medicine, University of Manitoba, Winnipeg, Canada Department of Obstetrics and Gynaecology, University of Nairobi, Nairobi, Kenya Departments of Pediatrics Genome Sciences Laboratory Medicine, University of Washington, Seattle, WA and Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, WA
    J Acquir Immune Defic Syndr 66:127-34. 2014
    ..We evaluated genetic variants in 51 candidate genes encoding proteins that interact with HIV-1 during the virus life cycle for association with HIV-1 outcomes in an African cohort...
  7. pmc Exome sequencing identifies the cause of a mendelian disorder
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington, USA
    Nat Genet 42:30-5. 2010
    ..Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits...
  8. doi Exome sequencing as a tool for Mendelian disease gene discovery
    Michael J Bamshad
    Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
    Nat Rev Genet 12:745-55. 2011
    ..These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling...
  9. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
    ..This strategy may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact...
  10. pmc Angiotensin-converting enzyme genotype and arterial oxygen saturation at high altitude in Peruvian Quechua
    Abigail W Bigham
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, USA
    High Alt Med Biol 9:167-78. 2008
    ..001). This suggests that the I-allele effect on Sa(O(2)) is not mediated by the peripheral control of breathing, but rather by some other central cardiopulmonary effect of the ACE gene on the renin-angiotensin-aldosterone system (RAAS)...
  11. doi OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans
    Ellen E Quillen
    Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA
    Hum Genet 131:1073-80. 2012
    ..In addition to SLC24A5 and SLC45A2, genes previously associated with European/non-European differences in skin pigmentation, OPRM1 and EGFR were associated with variation in skin pigmentation in New World populations for the first time...
  12. pmc A genomewide admixture mapping panel for Hispanic/Latino populations
    Xianyun Mao
    Department of Anthropology, The Pennsylvania State University, University Park, PA 16801, USA
    Am J Hum Genet 80:1171-8. 2007
    ..This genomewide AM panel will make it possible to apply AM approaches in many admixed populations throughout the Americas...
  13. pmc Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    Jacob A Tennessen
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 337:64-9. 2012
    ..Furthermore, we show that large sample sizes will be required to associate rare variants with complex traits...
  14. doi Toll-like receptor variants are associated with infant HIV-1 acquisition and peak plasma HIV-1 RNA level
    Kristin M Beima-Sofie
    aInstitute for Public Health Genetics bDepartment of Epidemiology cDepartment of Medicine dDepartment of Biostatistics eDepartment of Global Health fDepartment of Pediatrics gDepartment of Genome Sciences, University of Washington, Seattle, Washington hDepartment of Anthropology, University of Michigan, Ann Arbor, Michigan iVaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA jDepartment of Paediatrics, University of Nairobi, Nairobi, Kenya
    AIDS 27:2431-9. 2013
    ..We evaluated the association of single nucleotide polymorphisms (SNPs) in TLRs with infant HIV-1 acquisition and viral control...