Чтение онлайн

3 О первом секвенировании генома человека: Carvalho T., Zhu T. The Human genome project (1990–2003). Embryo Project Encyclopedia. 2014 (http://embryo.asu.edu/handle/10776/7829); International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001; 409: 860–921; Venter J. C. et al. The sequence of the human genome. Science. 2001; 291: 1304–1351. О завершении проекта «Геном человека»: Pennisi E. Reaching their goal early, sequencing labs celebrate. Science. 2003; 300: 409; Genome.gov, Human Genome Project FAQ (https://www.genome.gov/human-genome-project/Completion-FAQ).

4 Mardis E. R. Next-generation DNA sequencing methods. Annual Review of Genomics and Human Genetics. 2008; 9: 387–402; Metzker M. L. Sequencing technologies – the next generation. Nature Reviews Genetics. 2010; 11: 31–46.

5 Margulies M. et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature. 2005; 437: 376–380; Nyren P. et al. Solid phase DNA minisequencing by an enzymatic luminometric inorganic pyrophosphate detection assay. Analytical Biochemistry. 1993; 208: 171–175.

6 Davies K. The $ 1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. NY: Free Press, 2010.

7 Pennisi E. Semiconductors inspire new sequencing technologies. Science. 2010; 327: 1190; Rothberg J. M. et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature. 2011; 475: 348–352.

8 Herper M. Gene machine. Forbes. 2010; December 30 (https://www.forbes.com/forbes/2011/0117/features-jonathan-rothberg-medicine-tech-gene-machine.html#12c8a7ed2711).

9 Draven1983101. Illumina Solexa sequencing. YouTube. 2010 (https://www.youtube.com/watch?v=77r5p8IBwJk).

10 Eid J. et al. Real-time DNA sequencing from single polymerase molecules. Science. 2009; 323: 133–138.

11 Bayle H. Nanopore sequencing: From imagination to reality. Clin. Chem. 2015; 61: 25–31: Deamer D. et al. Three decades of nanopore sequencing. Nat. Biotechnol. 2016; 34: 518–524.

12 Изображение нанопорового канального белка основано на структуре 3X2R из Protein Data Bank: https://www.rcsb.org/structure/3X2R; Cao B. et al. Structure of the nonameric bacterial amyloid secretion channel. Proc. Natl. Acad. Sci. 2014; 111: E5439 – E5444. Изображение полимеразы, прикрепленной к нанопоровому канальному белку, основано на структуре 3BDP из Protein Data Bank: https://www.rcsb.org/structure/3BDP; Kiefer J. R. et al. Visualizing DNA replication in a catalytically active Bacillus DNA polymerase crystal. Nature. 1998; 391: 304–307.

13 Информация из базы данных Национальных институтов здоровья США: Wetterstrand K. A. DNA sequencing costs: Data. National Human Genome Research Institute. 2023 (www.genome.gov/sequencingcostsdata).

14 См., например, https://www.nih.gov/news-events/news-releases/nhgri-funds-development-third-generation-dna-sequencing-technologies.

15 Coffin J. M., Fan H. The discovery of reverse transcriptase. Annual Review of Virology. 2016; 3: 29–51.

16 Zheng G. X. Y. et al. Massively parallel digital transcriptional profiling of single cells. Nature Communications. 2017; 8: 14049; Kotliar D. et al. Identifying gene expression programs of cell-type identity and cellular activity with single-cell RNA-Seq. eLife. 2019; 8: e43803; Wagner D. E. et al. Single-cell mapping of gene expression landscapes and lineage in the zebrafish embryo. Science. 2018; 360: 981–987.

Глава 14. Генетические комбинации

1 Roser M. et al. Human height. Our World in Data. 2013 (https://ourworldindata.org/human-height); Roser M., Ritchie H. Food supply. Our World in Data. 2013 (https://ourworldindata.org/food-supply).

2 О наследуемости роста, питании и полногеномных исследованиях: Lai C.-Q. How much of human height is genetic and how much is due to nutrition? Scientific American. 2006; December 11 (https://www.scientificamerican.com/article/how-much-of-human-height/).

3 Lello L. et al. Accurate genomic prediction of human height. Genetics. 2018; 210: 477–497.

4 Wainschtein P. et al. Recovery of trait heritability from whole genome sequence data. bioRxiv. 2019; 588020; Geddes L. Genetic study homes in on height's heritability mystery. Nature. 2019; 568: 444–445.

5 Hesser L. F. The Man Who Fed the World: Nobel Peace Prize Laureate Norman Borlaug and His Battle to End World Hunger. Dallas, TX: Durban House Publishing, 2006; Easterbrook G. Forgotten benefactor of humanity. The Atlantic. 1997; January (https://www.theatlantic.com/magazine/archive/1997/01/forgotten-benefactor-of-humanity/306101/).

6 Zuidhof M. J. et al. Growth, efficiency, and yield of commercial broilers from 1957, 1978, and 2005. Poultry Science. 2014; 93: 2970–2982.

7 Activity reports. Council on Dairy Cattle Breeding (https://uscdcb.com/activity-reports/).

8 Strauss M. The 5,000– year secret history of the watermelon. National Geographic. 2015; August 21 (https://www.nationalgeographic.com/news/2015/08/150821– watermelon-fruit-history-agriculture/); Jayakodi M. et al. Sweet genes in melon and watermelon. Nature Genetics.2019; 51: 1572–1573; Guo S. et al. Resequencing of 414 cultivated and wild watermelon accessions identifies selection for fruit quality traits. Nature Genetics. 2019; 51: 1616–1623.

9 Antoniou A. et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. American Journal of Human Genetics. 2003; 72: 1117–1130.

10 Edwards R. G. et al. Early stages of fertilization in vitro of human oocytes matured in vitro. Nature. 1969; 221: 632–635.

11 Подробный разбор научного, исторического и социального контекстов искусственного оплодотворения см. в Ball P. Unnatural: The Heretical Idea of Making People. London, first edition: Bodley Head, 2011.