Search Results for "pedigree"

Main application is twofold: first to convert genotype SNP data into formats of different imputation tools like PLINK MACH, IMPUTE, BEAGLE and BIMBBAM, second to transform imputed data into different file formats like PLINK, HAPLOVIEW, EIGENSOFT and SNPTEST. Readable file formats: plink-pedigree (ped and map), plink-raw, plink-dosage, mach , minimac, impute, snptest, beagle and bimbam. Similarly all kinds of imputation of outputs are also accepted. Formats which can be generated by fcGENE: plink-pedigree, plink-raw, plink-dosage, mach-inputs, minimac-inputs, impute-inputs, beagle-inputs and bimbam-inputs, HAPLOVIEW-inputs, EIGENSOFT-inputs. ...

...Although many pathway analysis tools have been developed for case-control study, there is no tool that can use all information from raw genotypes in general nuclear families. We developed the Pathway-PDT, which uses the framework of Pedigree Disequilibrium Test (PDT) for general family data, to perform pathway analysis. Availability and implementation: Pathway-PDT is implemented in C++ with POSIX threads (pthreads). Binaries (Windows) and source codes with makefile (Linux) are available. Contact: rchung@nhri.org.tw Citation: Yo Son Park, Michael Schmidt, Eden R. ...

.../denovo_hit <VCF file> <PED file> Output: ./potential_denovo.txt To compile: g++ -std=c++11 denovo_hit.cpp -o denovo_hit Please see files for example VCF file, and pedigree file. Format VCF file (tab delimited): CHROM, POS, ID, REF, ALT, QUAL, FILTER, INFO, FORMAT, SAMPLE_ID, ... Format pedigree file (tab delimited): SAMPLE_ID_CHILD, SAMPLE_ID_PARENT1, SAMPLE_ID_PARENT2 Output file format (tab delimited): CHROM, POS, ID, REF, ALT, QUAL, FILTER, INFO, PEDIGREE, CALL_STATS, COUNTS ...

The Madeline 2.0 Pedigree Drawing Engine is a pedigree drawing program designed to handle large and complex pedigrees with an emphasis on readability and aesthetics. PLEASE NOTE THAT as of 2015.09.30, the most current Madeline source code tree is now maintained on GITHUB at https://github.com/piratical/Madeline_2.0_PDE .

It is still challenging to call rare variants. In family-based sequencing studies, information from all family members should be utilized to more accurately identify new germline mutations. FamSeq serves this purpose by providing the probability of an individual carrying a variant given his/her entire family’s raw measurements. FamSeq accommodates de novo mutations and can perform variant calling at chromosome X. To accommodate variations in data complexity, FamSeq consists of three...

GERMLINE is an algorithm for discovering long shared segments of Identity by Descent (IBD) between pairs of individuals in a large population. It takes as input genotype or haplotype marker data for individuals (as well as an optional known pedigree) and generates a list of all pairwise segmental sharing.