排序方式: 共有9条查询结果,搜索用时 15 毫秒
1
1.
2.
Bentley DR Balasubramanian S Swerdlow HP Smith GP Milton J Brown CG Hall KP Evers DJ Barnes CL Bignell HR Boutell JM Bryant J Carter RJ Keira Cheetham R Cox AJ Ellis DJ Flatbush MR Gormley NA Humphray SJ Irving LJ Karbelashvili MS Kirk SM Li H Liu X Maisinger KS Murray LJ Obradovic B Ost T Parkinson ML Pratt MR Rasolonjatovo IM Reed MT Rigatti R Rodighiero C Ross MT Sabot A Sankar SV Scally A Schroth GP Smith ME Smith VP Spiridou A Torrance PE Tzonev SS Vermaas EH Walter K Wu X Zhang L Alam MD 《Nature》2008,456(7218):53-59
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400-800 base pair) reads, but the existence of reference sequences for the human and many other genomes makes it possible to develop new, fast approaches to re-sequencing, whereby shorter reads are compared to a reference to identify intraspecies genetic variation. Here we report an approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost. Single molecules of DNA are attached to a flat surface, amplified in situ and used as templates for synthetic sequencing with fluorescent reversible terminator deoxyribonucleotides. Images of the surface are analysed to generate high-quality sequence. We demonstrate application of this approach to human genome sequencing on flow-sorted X chromosomes and then scale the approach to determine the genome sequence of a male Yoruba from Ibadan, Nigeria. We build an accurate consensus sequence from >30x average depth of paired 35-base reads. We characterize four million single-nucleotide polymorphisms and four hundred thousand structural variants, many of which were previously unknown. Our approach is effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications. 相似文献
3.
4.
5.
Mills RE Walter K Stewart C Handsaker RE Chen K Alkan C Abyzov A Yoon SC Ye K Cheetham RK Chinwalla A Conrad DF Fu Y Grubert F Hajirasouliha I Hormozdiari F Iakoucheva LM Iqbal Z Kang S Kidd JM Konkel MK Korn J Khurana E Kural D Lam HY Leng J Li R Li Y Lin CY Luo R Mu XJ Nemesh J Peckham HE Rausch T Scally A Shi X Stromberg MP Stütz AM Urban AE Walker JA Wu J Zhang Y Zhang ZD Batzer MA Ding L Marth GT McVean G Sebat J Snyder M Wang J Ye K Eichler EE Gerstein MB Hurles ME Lee C McCarroll SA 《Nature》2011,470(7332):59-65
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map encompassed 22,025 deletions and 6,000 additional SVs, including insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, which facilitated analysing their origin and functional impact. We examined numerous whole and partial gene deletions with a genotyping approach and observed a depletion of gene disruptions amongst high frequency deletions. Furthermore, we observed differences in the size spectra of SVs originating from distinct formation mechanisms, and constructed a map of SV hotspots formed by common mechanisms. Our analytical framework and SV map serves as a resource for sequencing-based association studies. 相似文献
6.
Abd El-Aziz MM Barragan I O'Driscoll CA Goodstadt L Prigmore E Borrego S Mena M Pieras JI El-Ashry MF Safieh LA Shah A Cheetham ME Carter NP Chakarova C Ponting CP Bhattacharya SS Antinolo G 《Nature genetics》2008,40(11):1285-1287
Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved from Drosophila to man and is likely to have a role in the modeling of retinal architecture. 相似文献
7.
den Hollander AI Koenekoop RK Mohamed MD Arts HH Boldt K Towns KV Sedmak T Beer M Nagel-Wolfrum K McKibbin M Dharmaraj S Lopez I Ivings L Williams GA Springell K Woods CG Jafri H Rashid Y Strom TM van der Zwaag B Gosens I Kersten FF van Wijk E Veltman JA Zonneveld MN van Beersum SE Maumenee IH Wolfrum U Cheetham ME Ueffing M Cremers FP Inglehearn CF Roepman R 《Nature genetics》2007,39(7):889-895
8.
RobertK.Jadicke 《杭州科技》2000,21(3):3-4
美国硅谷的发展在整个世界引起了广泛的兴趣和关注 ,硅谷已成为美国高科技发展的标志 ,任何其他国家和地区的高科技的发展都不能和硅谷相比。经济论坛硅谷位于海湾和山谷之间 ,东西宽16公里 ,南北跨度50公里 ,并且正在不断延长。硅谷有4000家公司 ,他们都很小。80年代后期 ,IBM公司总裁访问了我大学 ,他告诉我硅谷3000多家公司中只有少于100家的年收入超过1亿美元。硅谷是从事信息技术的、小的、成长型公司的产地。直到硅半导体芯片运用于微电子工业 ,硅谷才成为美国乃至世界的高科技工业的中心。现在 ,许多大公司将生… 相似文献
9.
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 总被引:10,自引:0,他引:10
Metherell LA Chapple JP Cooray S David A Becker C Rüschendorf F Naville D Begeot M Khoo B Nürnberg P Huebner A Cheetham ME Clark AJ 《Nature genetics》2005,37(2):166-170
Familial glucocorticoid deficiency (FGD), or hereditary unresponsiveness to adrenocorticotropin (ACTH; OMIM 202200), is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood. Mutations of the ACTH receptor (melanocortin 2 receptor, MC2R) account for approximately 25% of cases of FGD. FGD without mutations of MC2R is called FGD type 2. Using SNP array genotyping, we mapped a locus involved in FGD type 2 to chromosome 21q22.1. We identified mutations in a gene encoding a 19-kDa single-transmembrane domain protein, now known as melanocortin 2 receptor accessory protein (MRAP). We show that MRAP interacts with MC2R and may have a role in the trafficking of MC2R from the endoplasmic reticulum to the cell surface. 相似文献
1