000 01217 a2200349 4500
005 20250517202313.0
264 0 _c20190513
008 201905s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.23413
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSaklatvala, Jake R
245 0 0 _aText-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients.
_h[electronic resource]
260 _bHuman mutation
_c05 2018
300 _a643-652 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aComputer Simulation
650 0 4 _aData Curation
650 0 4 _aData Mining
650 0 4 _aDatabases, Genetic
650 0 4 _aDisease
_xgenetics
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aHumans
650 0 4 _aLogistic Models
650 0 4 _aPhenotype
650 0 4 _aProbability
650 0 4 _aSearch Engine
700 1 _aDand, Nick
700 1 _aSimpson, Michael A
773 0 _tHuman mutation
_gvol. 39
_gno. 5
_gp. 643-652
856 4 0 _uhttps://doi.org/10.1002/humu.23413
_zAvailable from publisher's website
999 _c28103088
_d28103088