Interpreting variants in genes affected by clonal hematopoiesis in population data
Author:
Funder
National Human Genome Research Institute
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-023-02526-4.pdf
Reference17 articles.
1. Alberti MO, Srivatsan SN, Shao J, McNulty SN, Chang GS, Miller CA, Dunlap JB et al (2018) Discriminating a common somatic ASXL1 mutation (c.1934dup; p. G646Wfs*12) from artifact in myeloid malignancies using NGS. Leukemia 32(8):1874–1878
2. Amberger JS, Bocchini CA, Scott AF, Hamosh A (2019) OMIM.org: leveraging knowledge across phenotype-gene relationships. Nucleic Acids Res 47(D1):D1038–D1043
3. Avramović V, Frederiksen SD, Brkić M, Tarailo-Graovac M (2021) Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease. Hum Genomics 15(1):71
4. Brunet T, Berutti R, Dill V, Hecker JS, Choukair D, Andres S, Deschauer M et al (2022) Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. Hum Mol Genet. https://doi.org/10.1093/hmg/ddac034
5. Carlston CM, O’Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP et al (2017) Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz syndrome. Hum Mutat 38(5):517–523
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