Human Gene Mutation Database

By David N. Cooper, M. Krawczak. 1996

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods (2006, background): “Analysis of mutations has become increasingly important due to their association with various diseases (1,2).”
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins (2017, background): “Since information is available for healthy individuals (5) as well as for patients suffering from various diseases (6), it is possible to analyse the differences between neutral variants, which are present in a control population and are thus considered benign, and deleterious variants, which lead t”
Human Gene Mutation Database (HGMD®): 2003 update (2003, background): “org) represents the only comprehensive collation of germline mutations underlying human inherited disease [Krawczak and Cooper, 1997; Cooper et al., 1998; Krawczak et al., 2000].”
PANTHER: a library of protein families and subfamilies indexed by function. (2003, methodology): “In the past few years, profile methods (Gribskov et al. 1987; Henikoff and Henikoff 1991; Attwood et al. 1994), particularly Hidden Markov Models (HMM; Krogh et al. 1994; Eddy 1996) and PSI-BLAST (Altschul et al. 1997), have entered widespread use.”