Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps, Karen G

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. [electronic resource] - Human mutation 01 2020 - 81-102 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.23925 doi


Alleles
Amino Acid Substitution
Computational Biology--methods
Databases, Genetic
Genetic Variation
Genotype
Hemoglobins--chemistry
Humans
Loss of Function Mutation
Mutation
Open Reading Frames
Phenotype
Sensitivity and Specificity
alpha-Globins--chemistry
beta-Globins--chemistry