Estimating human mutation rate using autozygosity in a founder population

Catarina D. Campbell,Jessica X. Chong,Maika Malig,Arthur Ko,Beth L. Dumont,Lide Han,Laura Vives,B. O’Roak,Peter Sudmant,J. Shendure,M. Abney,C. Ober,E. Eichler

Published 2012 in Nature Genetics

ABSTRACT

Supplementary Table 1: Genome sequence generated ............................................................... 2 Supplementary Table 2: Statistics on identified SNVs ............................................................... 3 Supplementary Table 3: Properties of autozygosity ................................................................... 4 Supplementary Table 4: Large (>5 Mbp) autozygous segments identified ................................ 5 Supplementary Table 5: Summary of Sanger sequencing validations performed ...................... 6 Supplementary Table 6: Summary of de novo SNV mutation rate ............................................ 7 Supplementary Table 7: Summary of putative de novo mutations and validation ..................... 7

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