Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Detection probability against time for different epicentres.

The probability of the virus having been detected by day t (column 1) or first detected on day t (column 2) under four scenarios with diverse sampling probabilities (100%, 50%, 20%, 10%) for inbound flights, assuming different epicentres—Wuhan, Madrid, Miami, Mombasa, and Mumbai—and routine aircraft wastewater surveillance at all the 20 airports investigated.</p

World map of the airports studied.

Location of Wuhan (WUH), hypothetical epicentres (Madrid [Madrid], Miami [MIA], Mombasa [MBA], and Mumbai [BOM]), and a network of 20 major airports around the globe. The lines represent (postulated) direct flights from Wuhan in 2019, and the line widths are proportional to the (estimated) travel volume in 2019 [20].</p

Probabilities (%) of Beijing Capital International Airport (PEK) reporting positive wastewater samples from Wuhan on different days—30 December 2019, 7 January 2020, 13 January 2020, and 22 January 2020, assuming wastewater was tested from 100%, 50%, 20%, or 10% of inbound flights.

Probabilities (%) of Beijing Capital International Airport (PEK) reporting positive wastewater samples from Wuhan on different days—30 December 2019, 7 January 2020, 13 January 2020, and 22 January 2020, assuming wastewater was tested from 100%, 50%, 20%, or 10% of inbound flights.</p

Validation and projection from the case model.

(a) Fitted and observed number of new cases from 1 December 2019 to 8 January 2020, assuming only severe infections (20%) were detected; (b) fitted and observed number of new cases from 15 January to 8 February 2020, assuming a constant ascertainment rate; (c) predicted cumulative number of infections using our model, from 1 December 2019 to 22 January 2020, before Wuhan was locked down.</p

Appendix containing sensitivity analyses.

A list of sensitivity analyses performed for alternative sets of parameters or scenarios considered for probability calculation. (DOCX)</p

Appendix containing additional details on results for the main analysis.

Further information on the derived detection probabilities and delay in modal detection times due to subsampling in the main analysis. (DOCX)</p

Model schematic.

Graphical derivation of the final detection probability from the probabilities of air travel, viral shedding, defecation, fecal testing positivity, and sampling.</p

Probabilities (%) of the 20 major airports reporting positive wastewater samples from Wuhan by different time points—30 December 2019, 7 January 2020, 13 January 2020, and 22 January 2020, assuming wastewater was tested from 100%, 50%, 20%, or 10% of inbound flights.

Probabilities (%) of the 20 major airports reporting positive wastewater samples from Wuhan by different time points—30 December 2019, 7 January 2020, 13 January 2020, and 22 January 2020, assuming wastewater was tested from 100%, 50%, 20%, or 10% of inbound flights.</p