Characterizing the pathogenicity of genetic variants: the consequences of context

Author:

Ciesielski Timothy H.,Sirugo Giorgio,Iyengar Sudha K.ORCID,Williams Scott M.ORCID

Funder

Note I have been funded through Dr. Williams. His funding source is listed below.

U.S. Department of Health & Human Services | National Institutes of Health

U.S. Department of Health & Human Services | NIH | U.S. National Library of Medicine

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference83 articles.

1. Pathogenic variant. NCI Dictionary of Genetics Terms, https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/pathogenic-variant.

2. Bender, M. A. & Carlberg, K. Sickle cell disease. In: GeneReviews(®) (eds. Adam, M. P. et al.) (University of Washington, Seattle, 1993).

3. Ranque, B. et al. Estimating the risk of child mortality attributable to sickle cell anaemia in sub-Saharan Africa: a retrospective, multicentre, case-control study. Lancet Haematol. 9, e208–e216 (2022).

4. Depetris-Chauvin, E. & Weil, D. N. Malaria and early african development: evidence from the sickle cell trait. Econ. J. (London) 128, 1207–1234 (2018).

5. Gong, L., Parikh, S., Rosenthal, P. J. & Greenhouse, B. Biochemical and immunological mechanisms by which sickle cell trait protects against malaria. Malar J. 12, 317 (2013).

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