Performance of relationship estimation in 30 sequenced families using (A) GERMLINE-ERSA2.0, (B) fastIBD-ERSA2.0, and (C) ISCA-ERSA2.0.
Hong Li
Gustavo Glusman
Hao Hu
Shankaracharya
Juan Caballero
Robert Hubley
David Witherspoon
Stephen L. Guthery
Denise E. Mauldin
Lynn B. Jorde
Leroy Hood
Jared C. Roach
Chad D. Huff
10.1371/journal.pgen.1004144.g002
https://plos.figshare.com/articles/figure/_Performance_of_relationship_estimation_in_30_sequenced_families_using_A_GERMLINE_ERSA2_0_B_fastIBD_ERSA2_0_and_C_ISCA_ERSA2_0_/918790
<p>Area of the circles indicates the percentage of individual pairs whose estimated degrees of relationship are exactly the same as reported relationship. FS: full sibling. PO: parent offspring. UN: unrelated individuals. All ERSA analyses employed IBD masking. Histograms represent the number of pairs in each relationship category. Most of the pedigrees were ascertained on the basis of common, complex or rare, Mendelian diseases. As we have previously reported, this ascertainment can produce a downward bias in distant relationship estimates <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004144#pgen.1004144-Huff1" target="_blank">[10]</a>, which may account for the differences in relationship estimates between sequenced and simulated pedigrees for 10<sup>th</sup> through 12<sup>th</sup> degree relationships (see <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004144#pgen.1004144.s005" target="_blank">Figure S5</a>).</p>
2014-01-30 02:50:54
genetics
Heredity
Linkage (genetics)
population genetics
haplotypes
genomics
Genome analysis tools
Genome complexity
Genome sequencing
estimation
30
sequenced