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Scientists Finally Finish Decoding Entire Human Genome 

Scientists say they have finally assembled the full genetic blueprint for human life, adding the missing pieces to a puzzle nearly completed two decades ago.

An international team described the first-ever sequencing of a complete human genome – the set of instructions to build and sustain a human being – in research published Thursday in the journal Science. The previous effort, celebrated across the world, was incomplete because DNA sequencing technologies of the day weren’t able to read certain parts of it. Even after updates, it was missing about 8% of the genome.

“Some of the genes that make us uniquely human were actually in this ‘dark matter of the genome’ and they were totally missed,” said Evan Eichler, a University of Washington researcher who participated in the current effort and the original Human Genome Project. “It took 20-plus years, but we finally got it done.”

Many — including Eichler’s own students — thought it had been finished already.

“I was teaching them, and they said, ‘Wait a minute. Isn’t this like the sixth time you guys have declared victory? I said, ‘No, this time we really, really did it!” Eichler said.

Scientists said this full picture of the genome will give humanity a greater understanding of our evolution and biology while also opening the door to medical discoveries in areas like aging, neurodegenerative conditions, cancer and heart disease.

“We’re just broadening our opportunities to understand human disease,” said Karen Miga, an author of one of the six studies published Thursday.

The research caps off decades of work. The first draft of the human genome was announced in a White House ceremony in 2000 by leaders of two competing entities: an international publicly funded project led by an agency of the U.S. National Institutes of Health and a private company, Maryland-based Celera Genomics.

The human genome is made up of about 3.1 billion DNA subunits, pairs of chemical bases known by the letters A, C, G and T. Genes are strings of these lettered pairs that contain instructions for making proteins, the building blocks of life. Humans have about 30,000 genes, organized in 23 groups called chromosomes that are found in the nucleus of every cell.

Before now, there were “large and persistent gaps that have been in our map, and these gaps fall in pretty important regions,” Miga said.

Miga, a genomics researcher at the University of California-Santa Cruz, worked with Adam Phillippy of the National Human Genome Research Institute to organize the team of scientists to start from scratch with a new genome with the aim of sequencing all of it, including previously missing pieces. The group, named after the sections at the very ends of chromosomes, called telomeres, is known as the Telomere-to-Telomere, or T2T, consortium.

Their work adds new genetic information to the human genome, corrects previous errors and reveals long stretches of DNA known to play important roles in both evolution and disease. A version of the research was published last year before being reviewed by scientific peers.

“This is a major improvement, I would say, of the Human Genome Project,” doubling its impact, said geneticist Ting Wang of the Washington University School of Medicine in St. Louis, who was not involved in the research.

Eichler said some scientists used to think unknown areas contained “junk.”

“Some of us always believed there was gold in those hills,” he said. Eichler is paid by the Howard Hughes Medical Institute, which also supports The Associated Press’s health and science department.

Turns out that the gold Eichler believed in includes many important genes, he said, such as some integral to making a person’s brain bigger than a chimp’s, with more neurons and connections.

To find such genes, scientists needed new ways to read life’s cryptic genetic language.

Reading genes requires cutting the strands of DNA into pieces hundreds to thousands of letters long. Sequencing machines read the letters in each piece and scientists try to put the pieces in the right order. That’s especially tough in areas where letters repeat.

Scientists said some areas were illegible before improvements in gene sequencing machines that now allow them to, for example, accurately read a million letters of DNA at a time. That allows scientists to see genes with repeated areas as longer strings instead of snippets that they had to later piece together.

Researchers also had to overcome another challenge: Most cells contain genomes from both mother and father, confusing attempts to assemble the pieces correctly. T2T researchers got around this by using a cell line from one “complete hydatidiform mole,” an abnormal fertilized egg containing no fetal tissue that has two copies of the father’s DNA and none of the mother’s.

The next step? Mapping more genomes, including ones that include collections of genes from both parents. This effort did not map one of the 23 chromosomes that is found in males, called the Y chromosome, because the mole contained only an X.

Wang said he’s working with the T2T group on the Human Pangenome Reference Consortium, which is trying to generate reference, or template, genomes for 350 people representing the breadth of human diversity.

“Now we’ve gotten one genome right and we have to do many, many more,” Eichler said. “This is the beginning of something really fantastic for the field of human genetics.”

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Верещук: 31 березня працюватимуть два гуманітарних коридори

«Вночі надійшло повідомлення від Міжнародного комітету Червоного Хреста про те, що Росія підтверджує готовність відкрити доступ для гуманітарної колони у Маріуполь із транзитом через Бердянськ»

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Росія продовжує обстріли Харкова й Чернігова, зберігається загроза атак на об’єкти ОПК – Генштаб

Основні зусилля загарбників зосереджені на утриманні зайнятих рубежів та встановленні повного контролю над територією Донецької і Луганської областей

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Росію треба примусити до миру і відповідальності – Зеленський у зверненні до парламенту Австралії

«Після 36 днів повномасштабної війни Росії проти України можна впевнено сказати, що у світу немає іншого шляху гарантувати глобальну безпеку, ніж примусити Росію до тиші, примусити до миру»

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South Koreans Flock Overseas for ‘Revenge Travel’ as COVID Rules Ease

After spending two years being socially distanced in his home country of South Korea, Kim Hoe-jun booked a last-minute flight to Hawaii, where he had enjoyed his honeymoon six years ago, giving in to his craving for overseas travel.

“I bought the ticket just a week ago, but it was rather a no-brainer. It felt like I was making up for those two years not being able to go abroad often as I used to before COVID,” he said, before boarding the plane from Incheon International Airport on Friday.

Vaccinated and boosted, Kim and his wife are among South Koreans joining in a rush for “revenge travel” — a term that has been trending on social media as people scramble to book overseas trips that were delayed by coronavirus restrictions.

The boom started after March 21 when South Korea lifted a seven-day mandatory quarantine for fully vaccinated travelers arriving from most countries. The restriction had been eased last year but was reimposed in December as the highly infectious Omicron variant spread.

The country has largely scrapped its once-aggressive tracing and containment efforts despite a record COVID-19 wave, joining a growing list of Asian countries that have eased quarantine rules, including Singapore, Japan, Australia and New Zealand.

Koreans now appear more ready to travel. Polls showed people are less worried about the implications of catching the virus, and increasingly see its prevention as out of their hands.

Sales of overseas flight tickets on 11st, an e-commerce unit of SK Telecom, South Korea’s top mobile carrier, rose more than eight-fold compared with a year before between March 11, when the lifting of quarantine was announced, and March 27, the company said.

Kim Na-yeon, 27, was excited to return to Hawaii, where she used to live.

“I couldn’t dare to travel even in Korea because of COVID,” she said. “But now I feel a bit freer with the exemption, so I’ve decided to go meet old friends and do some sightseeing.”

Exploding demand

Airlines and travel agencies have reported exploding demand for routes to Hawaii, Saipan and Guam, as well as some destinations in Europe and Southeast Asia where tourists submitting a vaccination certificate or negative test result are exempted from quarantine.

Saipan and Guam, both of which have travel bubble pacts with South Korea, also offer free COVID testing and pay for quarantine expenses if a traveler tests positive. Each South Korean national visiting Saipan receives $100 in “travel bucks” to spend at businesses there.

The tour arm of online retail giant Interpark reported a 324% growth in flight bookings for Oceania between March 11-22 from the same period of 2021, a 268% increase for Southeast Asia and 262% more bookings for Europe.

On Sunday, the company sold a record 5,200 Hawaii tour packages within 70 minutes. CJ Corp’s home shopping unit said it received about 2,800 orders for a Spain and Italy trip in one hour on Sunday, totaling 15 billion won ($12.41 million), days after garnering 9 billion won ($7.4 million) from its sales of a Hawaii package.

“The surge reflects growing customer sentiment that an end of COVID travel curbs might be in the offing after the mandatory quarantine was lifted,” said Lee Jeong-pil, general manager of CJ’s home shopping unit.

Lee Tae-woo, a 36-year-old frequent traveler to Japan, said he has changed some money into yen, taking advantage of the currency’s sharp decline and hoping to jump on the revenge travel bandwagon soon.

Though Japan has yet to allow tourists back in, it has reduced the quarantine period for arrivals for business and other purposes to three days from seven this month and signaled further easing of travel curbs.

“It’s been a long wait, and I’m ready to go back as soon as they finally open up again and visit my favorite coffee roastery and enjoy the night view from Shibuya station,” Lee said, referring to Tokyo’s bustling central district.

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CDC Drops COVID-19 Health Warning for Cruise Ship Travelers

Federal health officials are dropping the warning they have attached to cruising since the beginning of the pandemic, leaving it up to vacationers to decide whether they feel safe getting on a ship.

Cruise-ship operators welcomed Wednesday’s announcement, which came as many people thought about summer vacation plans.

An industry trade group said the move by the Centers for Disease Control and Prevention validated measures that ship owners have taken, including requiring crew members and most passengers to be vaccinated against the virus.

The CDC removed the COVID-19 “cruise ship travel health notice” that was first imposed in March 2020, after virus outbreaks on several ships around the world.

However, the agency expressed reservations about cruising.

“While cruising will always pose some risk of COVID-19 transmission, travelers will make their own risk assessment when choosing to travel on a cruise ship, much like they do in all other travel settings,” CDC spokesperson Dave Daigle said in an email.

Daigle said the CDC’s decision was based on “the current state of the pandemic and decreases in COVID-19 cases onboard cruise ships over the past several weeks.”

COVID-19 cases in the United States have been falling since mid-January, although the decline has slowed in recent weeks, and the current seven-day rolling average for daily new cases in the U.S. is roughly unchanged from two weeks ago, according to figures from Johns Hopkins University. States have rolled back mask mandates, putting pressure on federal officials to ease virus-related restrictions.

Outbreaks continue to be reported on cruise ships, which conduct random testing before the end of voyages.

On Sunday, a Princess Cruises ship returning from the Panama Canal had “multiple” passengers who had tested positive for the virus. Princess Cruises said all the affected passengers showed mild symptoms or none at all, and that all crew members and passengers had been vaccinated. About a dozen passengers tested positive before the same boat docked in San Francisco in January.

Operators are required to tell the CDC about virus cases on board ships. The agency has a colored-coded system to classify ships based on the percentage of passengers who test positive. The CDC said that system remains in place.

Cruise-ship operators have complained since the start of the pandemic that their industry has been singled out for a shutdown and then tighter COVID-19 restrictions than others, including airlines.

The Cruise Lines International Association said in a statement that the CDC’s decision to remove its health warning “recognizes the effective public health measures in place on cruise ships and begins to level the playing field between cruise and similarly situated venues on land.”

Colleen McDaniel, editor in chief of Cruise Critic, a site that publishes review of trips, called the CDC decision big news.

“Symbolically it’s a notice of winds of change when it comes to cruising,” she said. “I do think it can convince some of the doubters. What the CDC says does matter to cruisers.”

Політика Столиця Шляхта

Генштаб ЗСУ: Росія планує направити своїх силовиків, прокурорів і суддів на зайняті в Україні території

Водночас на залишених загарбниками територіях Київської області фіксуються «непоодинокі випадки мінування території та будівель місцевих жителів», додали в Генштабі

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Towering Ice Volcanoes Identified on Surprisingly Vibrant Pluto

A batch of dome-shaped ice volcanoes that look unlike anything else known in our solar system and may still be active have been identified on Pluto using data from NASA’s New Horizons spacecraft, showing that this remote frigid world is more dynamic than previously known.

Scientists said that these cryovolcanoes — numbering perhaps 10 or more — stand anywhere from 1 kilometer (six-tenths of a mile) to 7 kilometers (4-1/2 miles) tall. Unlike Earth volcanoes that spew gases and molten rock, this dwarf planet’s cryovolcanoes extrude large amounts of ice — apparently frozen water rather than some other frozen material — that may have the consistency of toothpaste, they said.

Features on the asteroid belt dwarf planet Ceres, Saturn’s moons Enceladus and Titan, Jupiter’s moon Europa and Neptune’s moon Triton also have been pegged as cryovolcanoes. But those all differ from Pluto’s, the researchers said, owing to different surface conditions such as temperature and atmospheric pressure, as well as different mixes of icy materials.

“Finding these features does indicate that Pluto is more active, or geologically alive, than we previously thought it would be,” said planetary scientist Kelsi Singer of the Southwest Research Institute in Boulder, Colorado, lead author of the study published this week in the journal Nature Communications.

“The combination of these features being geologically recent, covering a vast area and most likely being made of water ice is surprising because it requires more internal heat than we thought Pluto would have at this stage of its history,” Singer added.

Pluto, which is smaller than Earth’s moon and has a diameter of about 2,380 kilometers (1,400 miles), orbits about 5.8 billion kilometers (3.6 billion miles) away from the sun, roughly 40 times farther than Earth’s orbit. Its surface features plains, mountains, craters and valleys.

Images and data analyzed in the new study, obtained in 2015 by New Horizons, validated previous hypotheses about cryovolcanism on Pluto.

The study found not only extensive evidence for cryovolcanism but also that it has been long-lived, not a single episode, said Southwest Research Institute planetary scientist Alan Stern, the New Horizons principal investigator and study co-author.

“What’s most fascinating about Pluto is that it’s so complex – as complex as the Earth or Mars despite its smaller size and high distance from the sun,” Stern said. “This was a real surprise from the New Horizons flyby, and the new result about cryovolcanism re-emphasizes this in a dramatic way.”

The researchers analyzed an area southwest of Sputnik Planitia, Pluto’s large heart-shaped basin filled with nitrogen ice. They found large domes 30-100 kilometers (18-60 miles) across, sometimes combining to form more complexly shaped structures.

An elevation called Wright Mons, one of the tallest, may have formed from several volcanic domes merging, yielding a shape unlike any Earth volcanoes. Although shaped differently, it is similar in size to Hawaii’s large volcano Mauna Loa.

Like Earth and our solar system’s other planets, Pluto formed about 4.5 billion years ago. Based on an absence of impact craters that normally would accumulate over time, it appears its cryovolcanoes are relatively recent — formed in the past few hundred million years.

“That is young on a geologic timescale. Because there are almost no impact craters, it is possible these processes are ongoing even in the present day,” Singer said.

Pluto has lots of active geology, including flowing nitrogen ice glaciers and a cycle in which nitrogen ice vaporizes during the day and condenses back to ice at night — a process constantly changing the planetary surface.

“Pluto is a geological wonderland,” Singer said. “Many areas of Pluto are completely different from each other. If you just had a few pieces of a puzzle of Pluto you would have no idea what the other areas looked like.” 

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Biden Introduces COVID.gov, Urges Congress to Approve Additional Funding

U.S. President Joe Biden on Wednesday introduced his administration’s new website, COVID.gov, designed to be a clearinghouse for the latest pandemic information, as well as a means of providing access to vaccines, tests, treatments and masks on a single site.

Speaking to reporters at the White House, Biden also asked Congress to approve an additional $22 billion in emergency funding to help continue the fight against the COVID-19 pandemic.

Biden said the nation was entering a new moment in the pandemic. He stressed that though the pandemic no longer controlled our lives, it was not over, noting an uptick of new cases in recent weeks — as expected, he said.

Biden added that the U.S. now had the tools to protect all people.

The president said COVID.gov provides access to all the tools available to address COVID-19, including a list of all 90,000 vaccination sites in the United States, links to obtaining masks and tests, and where to obtain COVID-19 treatments. The site also has a search function, which can be used to find the latest information on the status of the pandemic in any region in the country.

‘Test-to-treat’ sites

The website also features a so-called “test-to-treat” locator, designed to allow access to U.S. pharmacies and community health centers where anyone can get tested for COVID-19 and, if required, receive appropriate treatment.

The White House said the administration had launched more than 2,000 such sites across the country, as well as 240 in Veterans Affairs and Department of Defense facilities to serve veterans, military personnel and their families.

The president also urged Congress to approve additional funding to fight the pandemic. He said without it, the U.S. would not be able to sustain its testing capacity beyond June, and vaccines could run out as early as September, leaving the nation vulnerable should another wave of the virus that causes COVID-19 hit.

Biden also noted that the U.S. Food and Drug administration on Tuesday approved a second COVID-19 booster — a fourth shot overall for those receiving the Pfizer or Moderna vaccines — for all people over age 50 and people with compromised immune systems.

He urged all eligible people to get their boosters. To prove his point, following his remarks at the White House, he received his fourth vaccination as reporters watched.