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Research: Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
- Joanna Kaplanis,
- Nadia Akawi,
- Giuseppe Gallone,
- Jeremy F. McRae,
- Elena Prigmore,
- Caroline F. Wright,
- David R. Fitzpatrick,
- Helen V. Firth,
- Jeffrey C. Barrett,
- Matthew E. Hurles,
- and on behalf of the Deciphering Developmental Disorders study
Genome Res. July 2019 29: 1047-1056; Published in Advance June 21, 2019, doi:10.1101/gr.239756.118
..., Bhandari A, et al. 2012. Whole- sequencing in autism identifies hot spots for de novo germline mutation. Cell 151: 1431–1442. doi:10.1016/j.cell.2012.11.019 ↵Pinto Y, Gabay O, Arbiza L, Sams AJ, Keinan A, Levanon EY. 2016. Clustered mutations in hominid evolution are consistent with APOBEC3G enzymatic...
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Research: APOBEC3A/B-induced mutagenesis is responsible for 20% of heritable mutations in the TpCpW context
- Vladimir B. Seplyarskiy,
- Maria A. Andrianova,
- and Georgii A. Bazykin
Genome Res. February 2017 27: 175-184; Published in Advance December 9, 2016, doi:10.1101/gr.210336.116
...a minority of heritable mutations are attributable to known mechanisms. Analyses of clustered mutations and L1 transposons have revealed a major role of low fidelity polymerase ζ and APOBEC3G in the generation of heritable mutations (Harris and Nielsen 2014; Seplyarskiy et al. 2015; Zhu et al. 2015...
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REVIEW: Mammalian non-LTR retrotransposons: For better or worse, in sickness and in health
- Victoria P. Belancio,
- Dale J. Hedges,
- and Prescott Deininger
Genome Res. March 2008 18: 343-358; Published in Advance February 6, 2008, doi:10.1101/gr.5558208
...may be part of the skewed representation for mouse L1s. In order to help assess the extent an X-chromosomal ascertainment bias might have impacted the number of insertion detections in humans, we analyzed the portion of all mutations in the Human Genome Mutation Database (HGMD) occurring on the X...
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