Простое начало. Как четыре закона физики формируют живой мир - Партасарати Рагувир

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.

12 Harris L. The Life poll. Life. 1969; 66 (23): 52–55.

13 Kiefer H. M. Gallup brain: The birth of in vitro fertilization. Gallup.com. 2003; August 5 (https://news.gallup.com/poll/8983/Gallup-Brain-Birth-Vitro-Fertilization.aspx).

14 European Society of Human Reproduction and Embryology. Science Daily 2018; July 3 (https://www.sciencedaily.com/releases/2018/07/180703084127.htm).

15 Danish Health and Medicines Authority, 2017 assisted reproduction report.

16 Cimadomo D. et al. The impact of biopsy on human embryo developmental potential during preimplantation genetic diagnosis. BioMed Research International. 2016; e7193075; Stern H. J. Preimplantation genetic diagnosis: Prenatal testing for embryos finally achieving its potential. Journal of Clinical Medicine. 2014; 3: 280–309.

17 Karavani E. et al. Screening human embryos for polygenic traits has limited utility. Cell. 2019; 179: 1424–1435.e8.

18 Wills M. When forced sterilization was legal in the U. S. JSTOR Daily. 2017; August 3 (https://daily.jstor.org/when-forced-sterilization-was-legal-in-the-u-s/).

19 DenHoed A. The forgotten lessons of the American eugenics movement. New Yorker. 2016; April 27 (https://www.newyorker.com/books/page-turner/the-forgotten-lessons-of-the-american-eugenics-movement); Zimmer C. She Has Her Mother's Laugh: The Powers, Perversions, and Potential of Heredity (1st ed.). New York: Dutton, 2018.

20 Robinson M. R. et al. Genetic evidence of assortative mating in humans. Nature Human Behaviour. 2017; 1: 1–13.

Глава 15. Как мы пишем ДНК

1 Wendt D. Two tons of pig parts: Making insulin in the 1920s. O Say Can You See? (blog for the National Museum of American History). 2013; November 1 (https://americanhistory.si.edu/blog/2013/11/two-tons-of-pig-parts-making-insulin-in-the-1920s.html); Cloning insulin. Genentech. 2016 (https://www.gene.com/stories/cloning-insulin).

2 Простое иллюстрированное объяснение бактериальной трансформации можно найти на сайте «Академии Хана»: https://www.khanacademy.org/science/biology/biotech-dna-technology/dna-cloning-tutorial/a/bacterial-transformation-selection. Более подробные протоколы этапов трансформации, позволяющие понять, как эти процедуры выглядят в реальности, можно найти на сайтах поставщиков расходных материалов и реактивов – например, https://www.thermofisher.com/us/en/home/life-science/cloning/cloning-learning-center/invitrogen-school-of-molecular-biology/molecular-cloning/transformation.html.