Parental influence on human germline de novo mutations in 1,548 trios from Iceland
By Hákon Jónsson, P. Sulem, Birte Kehr, Snaedis Kristmundsdottir, Florian Zink, Eirikur Hjartarson, M. Hardarson, K. E. Hjorleifsson, H. Eggertsson, S. A. Gudjonsson and 18 more. 2017
505 citations recorded by the source corpus.
Subfields: Cancer Research, Genetics
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Citations in the corpus
- Best practices for variant calling in clinical sequencing (2020, background): “29 × 10 per base pair per generation [86, 87].”
- High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios (2021, unknown): “The expected number of germline DNMs is ~100 per child (Jónsson et al., 2017; Kong et al., 2012), which suggests that the mean number of singletons among children exceeds the expectation by about a factor of 10, although this varies rather widely from sample to sample (Figure S1E).”