Allows users to validate candidate somatic single nucleotide variation (sSNVs) occurring close to germline heterozygous SNPs (gHets). LiRA permits to determine false positive (FPs) sSNV calls from factors related to one strand of DNA, and true positive (TPs) from both strands of one chromosome. It is able to perform SNV calling in single cells.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA; Bioinformatics and Integrative Genomics PhD program, Harvard Medical School, Boston, MA, USA; Centre for Molecular Science Informatics, Department of Chemistry, University of Cambridge, Cambridge, UK; Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Neuroscience and Harvard/MIT MD-PHD Program, Harvard Medical School (HMS), Boston, MA, USA
LiRA funding source(s)
Supported by NHGRI (T32HG002295) and NIMH (U01MH106883).