FingerprintingSummaryMetrics

Metrics

Category Metrics


Overview

Summary fingerprinting metrics and statistics about the comparison of the sequence data from a single read group (lane or index within a lane) vs. a set of known genotypes for the expected sample. @author Tim Fennell

This table summarizes the values that are specific to this metric.

Metric Summary
READ_GROUP
The read group from which sequence data was drawn for comparison.
SAMPLE
The sample whose known genotypes the sequence data was compared to.
LL_EXPECTED_SAMPLE
The Log Likelihood of the sequence data given the expected sample's genotypes.
LL_RANDOM_SAMPLE
The Log Likelihood of the sequence data given a random sample from the human population.
LOD_EXPECTED_SAMPLE
The LOD for Expected Sample vs. Random Sample. A positive LOD indicates that the sequence data is more likely to come from the expected sample vs. a random sample from the population, by LOD logs. I.e. a value of 6 indicates that the sequence data is 1,000,000 more likely to come from the expected sample than from a random sample. A negative LOD indicates the reverse - that the sequence data is more likely to come from a random sample than from the expected sample.
HAPLOTYPES_WITH_GENOTYPES
The number of haplotypes that had expected genotypes to compare to.
HAPLOTYPES_CONFIDENTLY_CHECKED
The subset of genotyped haplotypes for which there was sufficient sequence data to confidently genotype the haplotype. Note: all haplotypes with sequence coverage contribute to the LOD score, even if they cannot be "confidently checked" individually.
HAPLOTYPES_CONFIDENTLY_MATCHING
The subset of confidently checked haplotypes that match the expected genotypes.
HET_AS_HOM
num of hets, observed as homs with LOD > threshold
HOM_AS_HET
num of homs, observed as hets with LOD > threshold
HOM_AS_OTHER_HOM
num of homs, observed as other homs with LOD > threshold

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