Identifying Mendelian disease genes with the variant effect scoring tool.

BMC genomics

Volumn 14 Suppl 3, Issue , 2013, Pages

  Carter, Hannah ^a   Douville, Christopher ^b   Stenson, Peter D ^b   Cooper, David N ^b   Karchin, Rachel ^b  

^a Johns Hopkins University   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; AREA UNDER THE CURVE; ARTICLE; ARTIFICIAL INTELLIGENCE; BIOLOGY; COMPARATIVE STUDY; EVALUATION; EXOME; GENETIC DATABASE; GENETIC DISORDER; GENETICS; HUMAN; METHODOLOGY; MISSENSE MUTATION; RECEIVER OPERATING CHARACTERISTIC;

ALGORITHMS; AREA UNDER CURVE; ARTIFICIAL INTELLIGENCE; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; EXOME; GENETIC DISEASES, INBORN; HUMANS; MUTATION, MISSENSE; ROC CURVE;

MLCS; MLOWN;

EID: 84874741731     PISSN: None     EISSN: 14712164     Source Type: None    
DOI: 10.1186/1471-2164-14-s3-s3     Document Type: Article

References (0)