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1: Nature. 2008 Apr 17;452(7189):872-6.
The complete genome of an individual by massively parallel DNA sequencing.
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM.
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing in picolitre-size reaction vessels. This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods. Comparison of the sequence to the reference genome led to the identification of 3.3 million single nucleotide polymorphisms, of which 10,654 cause amino-acid substitution within the coding sequence. In addition, we accurately identified small-scale (2-40,000 base pair (bp)) insertion and deletion polymorphism as well as copy number variation resulting in the large-scale gain and loss of chromosomal segments ranging from 26,000 to 1.5 million base pairs. Overall, these results agree well with recent results of sequencing of a single individual by traditional methods. However, in addition to being faster and significantly less expensive, this sequencing technology avoids the arbitrary loss of genomic sequences inherent in random shotgun sequencing by bacterial cloning because it amplifies DNA in a cell-free system. As a result, we further demonstrate the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing. This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'.
1: Nature. 2008 Apr 17;452(7189):872-6.
The complete genome of an individual by massively parallel DNA sequencing.
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM.
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of 'genomic medicine'. However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete individual human genomes. To realize the full potential of genomics for human health, this limitation must be overcome. Here we report the DNA sequence of a diploid genome of a single individual, James D. Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing in picolitre-size reaction vessels. This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods. Comparison of the sequence to the reference genome led to the identification of 3.3 million single nucleotide polymorphisms, of which 10,654 cause amino-acid substitution within the coding sequence. In addition, we accurately identified small-scale (2-40,000 base pair (bp)) insertion and deletion polymorphism as well as copy number variation resulting in the large-scale gain and loss of chromosomal segments ranging from 26,000 to 1.5 million base pairs. Overall, these results agree well with recent results of sequencing of a single individual by traditional methods. However, in addition to being faster and significantly less expensive, this sequencing technology avoids the arbitrary loss of genomic sequences inherent in random shotgun sequencing by bacterial cloning because it amplifies DNA in a cell-free system. As a result, we further demonstrate the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing. This is the first genome sequenced by next-generation technologies. Therefore it is a pilot for the future challenges of 'personalized genome sequencing'.
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. 1: Nature. 2008 Apr 17;452(7189):872-6.
The complete genome of an individual by massively parallel DNA sequencing.
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM.
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volmin, 10.04.2020 01:34
tinhdaika99, 13.04.2020 06:12
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vrida2, 09.08.2020 08:31
lyx90152, 10.08.2020 08:58
vrida2, 12.11.2021 10:37
Guest, 13.11.2021 08:49
England require only a point from their final qualifier in San Marino to confirm their place at the 2022 World Cup in Qatar after thrashing Albania at Wembley.
Harry Kane led the romp with a first-half hat-trick as England made light work of an Albania side expected to provide stiff opposition after a very respectable qualifying campaign.England were five goals ahead and out of sight by half-time, Harry Maguire setting them on their way with a ninth-minute header from Reece James' free-kick, Kane quickly adding a second at the far post from Jordan Henderson's cross. Henderson scored the third himself after a slick exchange with Kane before England's captain added two more before the break with a shot from an angle and a stunning scissors kick from Phil Foden's corner.
Harry Kane led the romp with a first-half hat-trick as England made light work of an Albania side expected to provide stiff opposition after a very respectable qualifying campaign.England were five goals ahead and out of sight by half-time, Harry Maguire setting them on their way with a ninth-minute header from Reece James' free-kick, Kane quickly adding a second at the far post from Jordan Henderson's cross. Henderson scored the third himself after a slick exchange with Kane before England's captain added two more before the break with a shot from an angle and a stunning scissors kick from Phil Foden's corner.
guest: 123vega , 23.11.2021 09:12
The Chancellor of Austria, Alexander Schallenberg has told the BBC he is sorry that Austria has had to make Covid-19 vaccinations a legal requirement, but that the current low take-up
rate is "too little, too late". "Nobody wants the situation where you dont get access to an intensive care unit bed because the beds are filled with people who did not get the vaccination and have Covid-19," he told Bethany Bell.
rate is "too little, too late". "Nobody wants the situation where you dont get access to an intensive care unit bed because the beds are filled with people who did not get the vaccination and have Covid-19," he told Bethany Bell.
guest: 123vega , 25.11.2021 08:00
Real Madrid reached the Champions League knockout stage for the 25th successive year with a comfortable win against Sheriff Tiraspol in Moldova.David Alaba opened the scoring with a free-kick that deflected beyond goalkeeper Giorgos Athanasiadis.Toni Kroos added a second before the break, firing in off the crossbar, while Karim Benzema then made it three.It means Real Madrid are through with a game to spare, as are Inter Milan, who beat Shakhtar Donetsk earlier.
guest: 123vega , 02.02.2022 08:20
Since it overthrew Aung San Suu Kyi's democratically elected government in a coup one year ago, Myanmar's military - known as the Tatmadaw - has gone on to shock the world by killing hundreds of its own civilians, including dozens.
vrida2, 18.03.2022 16:51
guest: 123vega , 21.03.2022 08:59
A few days after Russia's invasion of Ukraine, one of Russia's largest media companies, Russian Media Group (RMG), released a statement explaining why it would no longer be playing certain artists on its popular radio stations or music TV channel.
guest: 123vega , 04.04.2022 09:17
A team of Amazon workers has forced the technology giant to recognise a trade union in the US for the first time. Workers at a New York warehouse voted 55% in favour of joining the Amazon Labor Union. The group is led by former Amazon worker Chris Smalls, who made his name protesting against safety conditions at the retail giant during the pandemic.
guest: 123vega , 05.05.2022 11:18
NEW WAYS OF PUTTING PRESSURE ON RUSSIA WILL BE ON THE AGENDA WHEN BORIS JOHNSON MEETS WITH HIS JAPANESE COUNTERPART ON THURSDAY. THE UK PRIME MINISTER AND FUMIO KISHIDA ARE ALSO SET TO AGREE A NEW DEFENCE PARTNERSHIP BETWEEN THE TWO COUNTRIES.
guest: 123 , 30.05.2022 13:10
Authorities in Shanghai have announced that some Covid-19 lockdown measures imposed on businesses will be lifted from Wednesday. Plans have also been introduced to support the city's economy, which has been hit hard by the restrictions.
guest: 123 , 31.05.2022 08:59
SINCE LAUNCHING HIS INVASION OF UKRAINE, RUSSIA'S PRESIDENT VLADIMIR PUTIN HAS FACED AN UNPRECEDENTED GLOBAL RESPONSE, FROM CULTURAL BOYCOTTS TO COUNTRIES RADICALLY TRANSFORMING THEIR FOREIGN POLICIES. BUT THE LONGER THE CONFLICT GOES ON, THE MORE SIGNS THERE ARE OF DIVISIONS.
guest: 123 , 08.06.2022 13:05
South Korea and the US launched eight missiles on Monday, in response to a volley of ballistic missiles fired by North Korea the previous day. It comes as Pyongyang continues to escalate its missile tests. South Korea's president Yoon Suk-yeol.
guest: 123 , 09.06.2022 08:27
Elon Musk has threatened to walk away from his $44bn takeover of Twitter, accusing the social media company of "thwarting" his requests to learn more about its user base. In a letter filed with regulators, Mr Musk said he was entitled to do his own measurement of spam accounts.
guest: 123 , 11.06.2022 10:46
Saxon Mullins says she once had romantic dreams of what her 'first time' would be like. In none was she paralysed by fear in a Sydney alleyway, aged 18, with a man she had met only minutes earlier. Ms Mullins has always maintained this incident - in 2013 - was rape. It spurred her to push for legal reform in Australia, after a long court battle ended with a judge finding the man involved did not realise she hadn't consented to sex.
vrida2, 12.06.2022 11:36
vrida2, 13.11.2022 22:13
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guest: 123vega , 10.01.2023 07:11
Brazil's President Luiz Inácio Lula da Silva has vowed to punish supporters of the country's ex-leader, Jair Bolsonaro, after they stormed Congress. Supporters of the ousted far-right leader also stormed the Supreme Court and surrounded the presidential palace. But police regained control of the buildings in the capital Brasilia on Sunday evening after hours of clashes. Arriving in the city, Lula toured the Supreme Court building to see the damage for himself. Brasilia's Civil Police said that 300 people have been arrested.
watches89, 27.11.2023 03:30
The Denise Arctic Sport is ideal for exploration thanks to its crisp white dial and matte ceramic bezel that are designed to counteract reflections from bright snow during daytime, while the large illuminated markers are suited for long winter nights. A subtle power reserve indicator displays how much power is stored within the in-house regulated movement, which is precision certified to an impressive -1+4 seconds per 24 hours running time.