DeNovoGear: de novo indel and point mutation discovery and phasing.
Nat Methods
; 10(10): 985-7, 2013 Oct.
Article
in En
| MEDLINE
| ID: mdl-23975140
ABSTRACT
We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error modeling to reduce the false positive rate of mutation discovery in exome analysis and fragment information to identify the parental origin of germ-line mutations. We used DeNovoGear on human whole-genome sequencing data to produce a set of predicted de novo insertion and/or deletion (indel) mutations with a 95% validation rate.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Software
/
Genome, Human
/
Point Mutation
/
INDEL Mutation
/
Models, Genetic
Type of study:
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Nat Methods
Journal subject:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Year:
2013
Type:
Article