Considerations in assessing germline variant pathogenicity using cosegregation analysis.

Sophie BelmanMichael T ParsonsAmanda B SpurdleDavid E GoldgarBing-Jian Feng

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

An appropriate penetrance model improves the accuracy of Bayes factor cosegregation analysis for high-penetrant variants, and is a better choice than meiosis counting whenever feasible.

Keyphrases

escherichia coli
copy number
pseudomonas aeruginosa
dna damage
genome wide