Output Files

The various output files produced by lineage are detailed below. Output files are saved in the output directory, which is defined at the instantiation of the Lineage object. Generation of output files can usually be enabled or disabled via a save_output argument to the associated method.

Save SNPs

See here.

Find Discordant SNPs

Discordant SNPs between two or three individuals can be identified with find_discordant_snps(). One CSV file is optionally output when save_output=True.

discordant_snps_<name1>_<name2>_GRCh37.csv

Where name1 is the name of the first Individual and name2 is the name of the second Individual.

Column

Description

rsid

SNP ID

chrom

Chromosome of SNP

pos

Position of SNP

genotype_<name1>

Genotype of first individual

genotype_<name2>

Genotype of second individual

discordant_snps_<name1>_<name2>_<name3>_GRCh37.csv

Where name1 is the name of the first Individual, name2 is the name of the second Individual, and name3 is the name of the third Individual.

Column

Description

rsid

SNP ID

chrom

Chromosome of SNP

pos

Position of SNP

genotype_<name1>

Genotype of first individual

genotype_<name2>

Genotype of second individual

genotype_<name3>

Genotype of third individual

Find Shared DNA

Shared DNA between two or more individuals can be identified with find_shared_dna(). One PNG file and up to two CSV files are output when save_output=True.

In the filenames below,

  • name1 is the name of the first Individual

  • name2 is the name of the second Individual

  • cM_threshold corresponds to the same named parameter of find_shared_dna(); “.” is replaced by “p” with precision of 2, e.g., “0p75”

  • snp_threshold corresponds to the same named parameter of find_shared_dna()

  • genetic_map corresponds to the same named parameter of find_shared_dna().

Note

If more than two individuals are compared, all Individual names will be included in the filenames and plot titles using the same conventions.

Note

Genetic maps do not have recombination rates for the Y chromosome since the Y chromosome does not recombine. Therefore, shared DNA will not be shown on the Y chromosome.

shared_dna_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.png

This plot illustrates shared DNA (i.e., no shared DNA, shared DNA on one chromosome, and shared DNA on both chromosomes). The centromere for each chromosome is also detailed. Two examples of this plot are shown below.

https://raw.githubusercontent.com/apriha/lineage/master/docs/images/shared_dna_User662_User663_0p75cM_1100snps_GRCh37_HapMap2.png

In the above plot, note that the two individuals only share DNA on one chromosome. In this plot, the larger regions where “No shared DNA” is indicated are due to SNPs not being available in those regions (i.e., SNPs were not tested in those regions).

https://raw.githubusercontent.com/apriha/lineage/master/docs/images/shared_dna_User4583_User4584_0p75cM_1100snps_GRCh37_CEU.png

In the above plot, the areas where “No shared DNA” is indicated are the regions where SNPs were not tested or where DNA is not shared. The areas where “One chromosome shared” is indicated are regions where the individuals share DNA on one chromosome. The areas where “Two chromosomes shared” is indicated are regions where the individuals share DNA on both chromosomes in the pair (i.e., the individuals inherited the same DNA from their father and mother for those regions). Note that the regions where DNA is shared on both chromosomes is a subset of the regions where one chromosome is shared.

shared_dna_one_chrom_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.csv

If DNA is shared on one chromosome, a CSV file details the shared segments of DNA.

Column

Description

segment

Shared DNA segment number

chrom

Chromosome with matching DNA segment

start

Start position of matching DNA segment

end

End position of matching DNA segment

cMs

CentiMorgans of matching DNA segment

snps

Number of SNPs in matching DNA segment

shared_dna_two_chroms_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.csv

If DNA is shared on two chromosomes, a CSV file details the shared segments of DNA.

Column

Description

segment

Shared DNA segment number

chrom

Pair of chromosomes with matching DNA segment

start

Start position of matching DNA segment on each chromosome

end

End position of matching DNA segment on each chromosome

cMs

CentiMorgans of matching DNA segment on each chromosome

snps

Number of SNPs in matching DNA segment on each chromosome

Find Shared Genes

Shared genes (with the same genetic variations) between two or more individuals can be identified with find_shared_dna(), with the parameter shared_genes=True. In addition to the outputs produced by Find Shared DNA, up to two additional CSV files are output that detail the shared genes when save_output=True.

In the filenames below, name1 is the name of the first Individual and name2 is the name of the second Individual. (If more individuals are compared, all Individual names will be included in the filenames using the same convention.)

shared_genes_one_chrom_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.csv

If DNA is shared on one chromosome, this file details the genes shared between the individuals on at least one chromosome; these genes are located in the shared DNA segments specified in shared_dna_one_chrom_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.csv.

Column*

Description*

name

Name of gene

geneSymbol

Gene symbol

chrom

Reference sequence chromosome or scaffold

strand

+ or - for strand

txStart

Transcription start position (or end position for minus strand item)

txEnd

Transcription end position (or start position for minus strand item)

refseq

RefSeq ID

proteinID

UniProt display ID, UniProt accession, or RefSeq protein ID

description

Description

* UCSC Genome Browser / UCSC Table Browser

shared_genes_two_chroms_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.csv

If DNA is shared on both chromosomes in a pair, this file details the genes shared between the individuals on both chromosomes; these genes are located in the shared DNA segments specified in shared_dna_two_chroms_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.csv.

The file has the same columns as shared_genes_one_chrom_<name1>_<name2>_<cM_threshold>cM_<snp_threshold>snps_GRCh37_<genetic_map>.csv.