The fraction of predicted heterozygotes that are set to “No Call” by RHA decreases as the size of the heterozygote cluster increases.

The fraction of predicted heterozygotes that are set to “No Call” by RHA decreases as the size of the heterozygote cluster increases.

<p>For cluster sizes ranging from 1 to 4, we show the fraction of predicted heterozygotes with underlying unexpected intensities and the fraction of heterozygotes that are set to “No Call.” Both quantities decrease with increasing size of heterozygote cluster. Het = heterozygote.</p>

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Bibliographic Details
Main Author: Orna Mizrahi-Man (42539) (author)
Other Authors: Marcos H. Woehrmann (14135183) (author), Teresa A. Webster (14135186) (author), Jeremy Gollub (5548) (author), Adrian Bivol (4666309) (author), Sara M. Keeble (5782319) (author), Katherine H. Aull (14135189) (author), Anuradha Mittal (838746) (author), Alan H. Roter (14135192) (author), Brant A. Wong (14135195) (author), Jeanette P. Schmidt (14135198) (author)
Published: 2022
Subjects:
Genetics
Molecular Biology
Neuroscience
Biotechnology
Evolutionary Biology
Developmental Biology
Cancer
Biological Sciences not elsewhere classified
Chemical Sciences not elsewhere classified
rare heterozygous adjusted
positive predictive value
minor allele frequency
enhanced quality control
uk biobank genotyped
axiom &# 8482
novel genotyping algorithms
improved calling algorithm
first 50k individuals
array genotyping calls
significantly improve ppv
exome sequencing results
significantly improved
genotyping algorithm
axiom genotyping
sequencing results
exome sequencing
50k individuals
novel addition
directly genotyped
array probesets
array data
200k individuals
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truth ),
subsequently sequenced
study using
roughly equal
rha ),
retrospective evaluation
highly accurate
almost 100
200k data
01 %.
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