コーパス検索結果 (1語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 had non-tTMB-high status (<10 mutations per megabase).
2 1 megabases of the total genome size of 61.1 megabases).
3 ed enhancer-enhancer hubs spanning up to one megabase.
4 ng fragments ranging from 5 kilobases to > 1 megabase.
5 MB-high status was at least 10 mutations per megabase.
6 th a median of 0.35 non-silent mutations per megabase.
7 human genome with Hi-C at a resolution of 1 megabase.
8 gion; TMB-high was defined as >=20 mutations/megabase.
9 e into 625 contigs with an N50 length of 2.4 megabases.
10 ordination of NL contacts, even over tens of megabases.
11 stance scales, ranging from tens of bases to megabases.
12 tion control is apparently lost over several megabases.
13 el transcriptional interaction spanning 14.3 megabases.
14 lted in a final genome error rate of 1 in 10 megabases.
15 r of its six chromosomes, each spanning many megabases.
16 y 96 loci from a genome of approximately 400 megabases.
17 arthritis severity at a resolution of a few megabases.
18 o be caused by a deletion of approximately 2 megabases.
19 been impractical for regions beyond tens of megabases.
20 100 kilobases per minute, reaching up to 30 megabases.
21 methylated domains (PMDs) which extend up to megabases.
22 pha-satellite DNA, which spans up to several megabases.
23 generate extended haplotypes on the order of megabases.
25 ished dosage of the genes deleted in the 1.5-megabase 22q11 minimal critical deleted region in a mous
27 esis, and progress toward assembly of a 3.97-megabase, 57-codon Escherichia coli genome in which all
28 of the hypermutated phenotype (>12 mutations/megabase); 6 had mutation frequencies >200/megabase, and
29 y, 0.02 and 0.07 nonsynonymous mutations per megabase, a dramatically lower average mutational freque
30 e characterization of haplotypes that extend megabases along the human genome using high molecular we
31 lele-specific chromatin analysis of over 100 megabases along the maternally or paternally duplicated
32 f CENP-A and histone H3.1 binding within the megabase, alpha-satellite repeat-containing centromeres
33 ogies, which has led to a decreased cost per megabase and an increase in the number and diversity of
34 exonic somatic mutation rate of 12.0 events/megabase and identified the majority of genes previously
35 we produced high-quality sequence data of 59 megabases and assembled ~200,000 reads into 19,501 conti
37 nal centromeres span several kilobases up to megabases and do not seem to have DNA sequence specifici
38 ntotheonella' with genomes of greater than 9 megabases and multiple, distinct biosynthetic gene clust
39 nome-wide array data to identify ROHs (>1 megabase) and conducted global burden and locus-specific
40 ates even in heavily treated CRPCs (2.00 per megabase) and confirmed the monoclonal origin of lethal
43 nts had tTMB-high status (>=10 mutations per megabase), and 688 (87%) patients had non-tTMB-high stat
44 s/megabase); 6 had mutation frequencies >200/megabase, and 5 of these had somatic mutations in POLE,
46 somatic mutation rate was 1.2 mutations per megabase, and there was a median of 230 somatic rearrang
48 TMB), defined as the number of mutations per megabase; and clinical characteristics gathered from EHR
49 ty, from simple "point" centromeres to multi-megabase arrays of DNA satellites, has defied explanatio
52 and observe ultra-long-distance pieQTLs (>1 megabase away), including several disease-risk variants.
56 example, FOXO1, AZI2) often situated several megabases away; and finally, regions associated with dif
58 mes in pools, we assembled a sequence of 774 megabases carrying 5326 protein-coding genes, 1938 pseud
59 both small-scale (kilobase) and large-scale (megabase) changes in chromatin accessibility and nucleos
61 n centromeres are positioned within specific megabase chromosomal regions containing alpha-satellite
63 h hierarchy of structural layers, from multi-megabase compartments to sub-megabase topologically asso
64 ic role of Sycp3, CRISPR-loxP-mediated multi-megabase deletions of the Slx (5 Mb) and Slxl1 (2.3Mb) a
65 including medium size (from 1 kilobase to 1 megabase) deletions and duplications, and balanced inver
66 id strains with fewer than two mutations per megabase displayed a 25% decrease in lifespan, suggestin
67 that interacts in cis with PTHLH over a 24.4-megabase distance and in trans with the sex-determining
73 1 mutant cells reveals the appearance of sub-megabase domains defined by gene activation, CpG hyperme
77 from 10-20 kb (enhancers/repressors) to many megabases during intra- and inter-chromosomal interactio
79 gous end-joining using kilobase, rather than megabase, fragments of DNA, which we refer to as "stitch
89 ovides a set of precise, rapid, large-scale (megabase) genome-engineering operations for creating div
92 ive trait loci (cis-eQTL) mapping for this 2 megabase genomic region using postmortem human brain sam
93 overing a large genomic region (508 genes; 2 megabases; >60,000x raw depth) in a prospective study of
94 yndrome (22q11DS), the result of a 1.5- to 3-megabase hemizygous deletion on human chromosome 22, res
95 he human genome assembly correspond to multi-megabase heterochromatic regions composed primarily of t
101 e cycles, generating amplicons more than 100 megabases in length that became trapped within interphas
102 he level of large chromosomal domains (0.5-5 megabases in mammals) within which replicons are activat
107 ng from single modified DNA bases to several megabases in the case of heterochromatic histone modific
108 essive zones (range, 0.35 approximately 5.98 megabases), including a 14-gene cluster located on 16p11
109 ve; we found that allelic variation in a 0.3-megabase interval in the class I D locus confers substan
111 yndromic uterine fibroids, we explored a two-megabase interval spanning FH in the NIEHS Uterine fibro
113 incidence of approximately three lesions per megabase is preferentially repaired in the transcribed s
117 Xi exhibits extremely large loops, up to 77 megabases long, called "superloops." DXZ4 lies at the an
118 emporal changes in accessibility both across megabase-long AgR loci and locally at the recombination
119 locus, human chromosome 17q21.31, contains a megabase-long inversion polymorphism, many uncharacteriz
121 NP-A binding sites are identified within the megabase-long, repetitive alpha-satellite DNAs at each c
122 vidual chromosomes, and specific segments at megabase (Mb) and kilobase (kb) resolutions of single av
123 ut 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital hea
124 (HSY) and its X counterpart, yielding an 8.1-megabase (Mb) HSY pseudomolecule, and a 3.5-Mb sequence
125 irless skin of the extremities (3 and 14 per megabase (Mb) of genome), intermediate in those originat
126 d that targeted deletion in mice of the 0.11 megabase (mb)-long minimal deleted region (MDR) encompas
128 and accurate genome with a contig N50 of >15 megabases (Mb) and concordance of 99.997%, substantially
129 connecting anchor loci that may be dozens of megabases (Mb) apart, as well as inter-chromosomal links
131 ransfer of bacterial genomes as large as 1.8 megabases (Mb) into yeast under conditions that promote
132 infestans genome, which at approximately 240 megabases (Mb) is by far the largest and most complex ge
136 are being produced, going from the initial 1 Megabases (Mb) resolution to the current 10 Kilobases (K
139 complex phenotypes can be linked to long (>1-megabase [Mb]) runs of homozygosity (ROHs) detectable by
140 e polymorphism (SNP) arrays, we mapped a 1.3 megabase minimally deleted region including only the rep
143 tumor mutational burden (TMB) >=10 mutations/megabase (mut/Mb)] and larotrectinib/entrectinib (NTRK f
145 es in patient transcriptomes occurs within 1 megabase of 78 novel gene fusions that function as centr
148 genes expected based on number of genes per megabase of genome explains the observed density suggest
150 cer-trapping strategy in mice to scan a half-megabase of the 8q24 gene desert encompassing the prosta
151 M activation is not amplified by H2AX across megabases of chromatin to induce global signaling and re
153 quencing) technologies, we examined over 100 megabases of DNA from amplified extracts, revealing unbi
154 n of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pi
155 somatic mutations across approximately 1,800 megabases of DNA representing 1,507 coding genes from 44
156 oligonucleotides encoding approximately 2.5 megabases of DNA, which is at least 50 times larger than
162 he genetic interactions are located within 5 megabases of regions of known physical chromosome intera
163 ch to map the genomic locations of almost 20 megabases of sequence unlocalized or missing from the cu
165 gregate, we recovered 1.34 gigabases and 303 megabases of the Neandertal and Denisovan genome, respec
166 enome reduced in size by nearly 8%, with 1.1 megabases of the synthetic genome deleted, inserted, or
167 with alleles that are highly divergent (15.1 megabases of the total genome size of 61.1 megabases).
168 uality reference genome (contig N50 of 15.78 megabases) of the maize small-kernel inbred line, which
169 ds with random errors, we assembled 99% (244 megabases) of the Oropetium genome into 625 contigs with
170 , DNA content increased by approximately 250 megabases, often representing a substantial fraction of
172 troduce H3K9me3 at hundreds of loci spanning megabases on human chromosome 19 and simultaneously trac
173 repeat satellite III (SAT III), which spans megabases on the X chromosome of Drosophila melanogaster
174 omarkers Associated to Structural Ensembles (MEGABASE), on odd-numbered chromosomes, we predict the s
177 umina exon and RNA sequencing revealed a 1.2-megabase pair deletion encompassing the 27- and 50-kD ga
178 asts and erythroblasts the folding of 10-160-megabase pair engineered chromosome regions consisting o
180 ected indels ranging from 10 base pairs to 1 megabase pair that are difficult to detect via a single
183 romosomes, and infer loops averaging 0.8-1.0 megabase pairs (Mb) in early prophase and extending to 1
184 a from three human genomes and recover 33-79 megabase pairs (Mb) of duplications in which approximate
185 esidues, we were able to sequence 70 and 0.4 megabase pairs (Mbp) nuclear DNA of the Forbes' Quarry a
186 ter than the reference genome and that 420.2 megabase pairs of common repeats and 99.1% of validated
188 ing control region is the promoter for a one megabase paternal transcript encoding the ubiquitous pro
189 mutations averaged two to six mutations per megabase per cell, similar to that seen in many cancers,
190 Finally, we identified very large (over one megabase), rare SVs in 3.9% of samples, and estimate tha
192 The disease gene mapped to a less than 2-megabase recessive locus at 12q21.33 with a logarithm of
194 usted multivariate linear analyses in the 40-megabase region encompassing the linkage peak were condu
196 ssociation mapping across an approximately 4 megabase region of the xMHC using a validated panel of s
197 by epistasis between the gene NDP and a ~2.8-megabase region on chromosome 18 with suppressed recombi
200 ygous deletion of mouse chromosome 11B3, a 4-megabase region syntenic to human 17p13.1, produces a gr
203 f ICF1-iPSC methylomes also identifies large megabase regions of CG hypomethylation typically localiz
205 ng hybridization-based purification of multi-megabase regions with sequencing on the Illumina Genome
206 of chromosome 2H in a physical region of 1.3 megabases relative to the barley cv Morex reference asse
207 chromosomes fold at length scales beyond one megabase remains obscure relative to smaller-scale foldi
210 ome sequences within the linkage region (4.8 megabases) revealed missense mutation c.591C>A p.Glu197A
211 by the observation that the mutation rate at megabase scale and the local mutational patterns jointly
212 fferent epigenetic states at the kilobase-to-megabase scale, a length scale that is directly relevant
213 omosomes maintain domain organization at the megabase scale, but show variable cell-to-cell chromosom
222 ers of genes that promote reprogramming, and megabase-scale chromatin domains spanned by H3K9me3, inc
223 We report locus-specific disintegration of megabase-scale chromosomal conformations in brain after
224 th scales, ranging from single base pairs to megabase-scale chromosomal domains, and discuss the emer
225 brains, suggesting that previously reported megabase-scale CNVs in neurons arise at later stages of
227 ng data to construct sequence scaffolds with megabase-scale contiguity ordered into chromosomal pseud
229 that 13 to 41% of neurons have at least one megabase-scale de novo CNV, that deletions are twice as
233 e or repressed chromatin states, up to multi-megabase-scale domains associated with nuclear positioni
234 revealed that chromosomes are organized into megabase-scale domains that demarcate active and inactiv
235 ated across cancer types are concentrated in megabase-scale domains that occur near the telomeres and
237 y, we assign genetic aberrations to specific megabase-scale haplotypes generated from whole-genome se
238 ing from thousands of single base changes to megabase-scale path reorganizations, gap closures, and l
239 ools uses the barcoded aligned reads and the Megabase-scale phase blocks to determine haplotypes of S
240 aneuploid regions), loss of heterozygosity, megabase-scale phased haplotypes often spanning entire c
241 spects of genome instability-specifically, a megabase-scale rearrangement underlying two genomic diso
242 indings reveal considerable variation in the megabase-scale recombination landscape among recently di
243 expression of clusters of genes embedded in megabase-scale regions marked with H3K36me2 and that con
245 repressed by MeCP2 are often located within megabase-scale regions of high non-CG methylation that c
246 by MeCP2, but also enriched within extended megabase-scale regions surrounding MeCP2-repressed genes
247 estimated haplotypes to characterize mosaic megabase-scale structural mutations in 31,100 GWA study
248 show that 2% of individuals carry ultra-rare megabase-scale structural variants, nearly half of which
251 can delineate large runs of homozygosity (at megabase scales) and produce a reliable confidence inter
254 While the total copy number of large multi-megabase segments can be derived from such data, importa
255 overy by allowing fine mapping to only a few megabases, significantly decreasing the number of potent
256 y used to assemble genetic constructs in the megabase size range, and has previously been used to tra
257 in seven species of Timema, we found that a megabase-size "supermutation" has deleted color loci in
258 an chromosomes, centromeric regions comprise megabase-size arrays of 171 bp alpha-satellite DNA monom
259 the transient opening of heterochromatin at megabase-size differentially accessible domains (DADs).
260 A in a single cell and to randomly partition megabase-size DNA strands into multiple nanoliter compar
262 the conservation of coordinately replicated megabase-sized "replication domains" punctuated by origi
263 ome organization, including segregation into megabase-sized active and inactive compartments, and par
264 eres of Arabidopsis thaliana are composed of megabase-sized arrays of a 178-bp satellite repeat.
265 yotes, centromeres are typically composed of megabase-sized arrays of satellite repeats that evolve r
267 ve successfully used to prepare high-quality megabase-sized DNA from hundreds of plant, animal, fish,
269 f-renewing cells by inducing derepression of megabase-sized gene domains harboring downstream effecto
271 though re-formation rates vary greatly, many megabase-sized loops recovered in under an hour, consist
273 CISMR (CRISPR-mediated isolation of specific megabase-sized regions of the genome), which enables us
274 Cen2, Cen3, Cen5, Cen7, and Cen8) contained megabase-sized satellite repeat arrays that are unique t
277 that binds hermaphrodite Xs and establishes megabase-sized topologically associating domains (TADs).
279 an initial analysis of the approximately 730-megabase Sorghum bicolor (L.) Moench genome, placing app
280 Y chromosomes of Drosophila contain multi-megabase stretches of satellite DNA repeats and a handfu
281 cleotide variants (SNVs; average of 11.2 per megabase), structural variants (SVs; average of 46), or
282 esults in reduced DCC binding across several megabases surrounded by topologically associating domain
283 te a variant of Escherichia coli with a four-megabase synthetic genome through a high-fidelity conver
284 an adjacent 'gene desert' of approximately 2 megabases that contains the long non-coding RNA gene PVT
285 xpectedly, UCYN-A has a reduced genome (1.44 megabases) that is structurally similar to many chloropl
286 in the genome of these lymphomas was one per megabase, there were a tremendous number of copy number
287 rearrangements ranging in size from several megabases to a few hundred base pairs can be generated b
288 that, for genomes spanning approximately 100 megabases to approximately 10 gigabases, errors become i
290 ers, from multi-megabase compartments to sub-megabase topologically associating domains (TADs) and su
291 conformation capture (Hi-C) has revealed sub-megabase topologically associating domains (TADs), which
292 +/- 1.953 (mean +/- sd.; N = 7) variants per megabase (v/mb) for samples including synonymous variant
293 ion in recombination rates (centimorgans per megabase) was observed along the X chromosome, ranging f
294 th eve enhancers across distances of several megabases, when the communication is mediated by Homie.
295 At the intermediate scale of kilobases to megabases, which encompasses the sizes of genes, gene cl
298 ersonii, which consists of approximately 830 megabases with an N50 of 44,303 bp anchored to 12 chromo