The rate of human mutation

ALEXEY KONDRASHOV

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The rate of human mutation

机译：人类变异率

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Mutations are common on the scale of whole genomes, but rare on the scale of individual nucleotides. So until large-scale DNA sequencing became practical, measuring the rate at which novel mutations accumulate in a genome was a daunting task. Now, however, de novo mutations can be detected by a straightforward comparison of parent and offspring genotypes, making obsolete several ingenious methods that were previously used for this purpose. Such comparisons will rapidly produce reliable estimates of the parameters of spontaneous mutation in many species.

机译：突变在整个基因组的规模上很普遍，但在单个核苷酸的规模上很少见。因此，在大规模DNA测序成为现实之前，测量基因组中新突变积累的速率是一项艰巨的任务。但是，现在，可以通过直接比较亲本和后代基因型来检测从头突变，从而使以前用于此目的的几种巧妙方法过时了。这种比较将迅速产生许多物种自发突变参数的可靠估计。

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《Nature》 |2012年第7412期|p.467-468|共2页
作者
ALEXEY KONDRASHOV;
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Department of Ecology and Evolutionary Biology Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109, USA;

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收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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1. A new and more accurate estimate of the rate of concurrent tandem-base substitution mutations in the human germline: ~0.4% of the single-nucleotide substitution mutation rate [J] . ChenJ.-M., CooperD.N., FérecC. Human mutation . 2014,第3期

机译：对人类种系中并发串联碱基替代突变率的新的更准确的估计：〜0.4％的单核苷酸替代突变率
2. Spontaneous de novo germline mutations in humans and mice: rates, spectra, causes and consequences [J] . Genes & Genetic Systems . 2019,第1期

机译：人和小鼠中的自发de novo种系突变：率，光谱，原因和后果
3. Properties and rates of germline mutations in humans [J] . Campbell Catarina D., Eichler Evan E. Trends in Genetics . 2013,第10期

机译：人类种系突变的特性和发生率
4. MutationView: An Integrated Knowledge Base for Mutations and Polymorphisms in Human Disease Genes - Automatical Extraction of Disease-Associated Knowledge - [C] . Masafumi Ohtsubo, Susumu Mitsuyama, Takashi Kawamura, International Conference on Genome Informatics . 2003

机译：突变视图：人类疾病基因突变和多态性的综合知识基础 - 疾病相关知识的自动提取 -
5. Mutations within the second coordination sphere of catalytic iron (II) in human phenylalanine hydroxylase (hPAH) that affect the environment and electronic geometry of iron (II) are implicated in its mechanism, substrate binding and specificity. [D] . Daoud Kinzie, Sylvia Munir. 2005

机译：人类苯丙氨酸羟化酶（hPAH）中催化铁（II）的第二个配位域内的突变会影响铁（II）的环境和电子几何结构，其机制，底物结合和特异性都与它有关。
6. Mutation Rates in Humans. II. Sporadic Mutation-Specific Rates and Rate of Detrimental Human Mutations Inferred from Hemophilia B [O] . F. Giannelli, T. Anagnostopoulos, P. M. Green 1999

机译：人类的突变率。二。零星的特定突变率和有害人类突变率从血友病B推断
7. Mutation Rates in Humans. II. Sporadic Mutation-Specific Rates and Rate of Detrimental Human Mutations Inferred from Hemophilia B [O] . Giannelli, F., Anagnostopoulos, T., Green, P. M. 1999

机译：人类的突变率。二。零星的特定突变率和有害人类突变率从血友病B推断

The rate of human mutation

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