PMC:5420355 / 10134-10697
Annnotations
2_test
{"project":"2_test","denotations":[{"id":"28475857-25533962-2044940","span":{"begin":46,"end":48},"obj":"25533962"},{"id":"28475857-25086666-2044941","span":{"begin":197,"end":199},"obj":"25086666"}],"text":"We used the methods described in the DDD study22 to calculate the probability of identifying four de novo frameshift mutations in HIST1H1E using the gene-specific mutation rates from Samocha et al.23 The frameshift mutation rate in HIST1H1E (4.18 × 10−7) was multiplied by twice the number of case subjects in this study (710) in order to get the expected number of frameshift mutations. We calculated the probability of observing four or more de novo frameshift mutations in HIST1H1E given the expected number of frameshift mutations via the ppois function in R."}