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1 es describing de novo germline mutations and copy number variants.
2 mosomal deletions and duplications, known as copy number variants.
3 enomic loci previously implicated by de novo copy number variants.
4 lyze duplicons starting from identified high-copy number variants.
5 database for previously identified 16p13.11 copy number variants.
6 was analysed using direct sequencing and for copy number variants.
7 flanking the breakpoint junctions of complex copy number variants.
8 ASD, similar to that documented for de novo copy number variants.
9 existing multigene variants and suggests new copy number variants.
10 ons and deletions, short tandem repeats, and copy number variants.
11 eening may be attributable to large maternal copy-number variants.
12 n insertions and deletions, and 25,923 genic copy-number variants.
13 DNA repair also appears to create complex copy-number variants.
14 ects small deletions and duplications called copy-number variants.
15 ngle-cell libraries for detection of somatic copy-number variants.
16 are likely mediators of ASD across multiple copy-number variants.
19 Africa, we identify a diverse array of large copy-number variants affecting the host invasion recepto
20 cts on cortical surface area imply that this copy number variant affects brain structure early in the
21 mor and dating somatic single nucleotide and copy number variants along the tumor clonal evolution.
22 ress this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains
24 cleotide polymorphisms (SNPs), 8173 putative copy number variants and 3336 presence/absence variants.
25 aneuploid syndromes, population dynamics of copy number variants and differential evolutionary fate
26 fitting the minor component are enriched for copy number variants and low complexity regions, which c
28 Specific genetic causes, including certain copy number variants and single-gene mutations, are shar
30 jority of the insulinomas display mutations, copy number variants and/or dysregulation of epigenetic
31 enic genes within frequent autism-associated copy-number variants and proposed genes and pathways tha
32 ogeneity on the basis of the total number of copy-number variants and whether the variants are inheri
33 ited common single nucleotide polymorphisms, copy number variants, and rare single nucleotide variant
34 ort insertions or deletions (indels), larger copy number variants, and similarly sized copy neutral i
35 ant types, from single-nucleotide changes to copy-number variants, and these variations span a broad
36 ifaceted approach to investigate why 15q11.2 copy number variants are prominent risk factors for schi
38 severe clinical presentation, and secondary copy-number variants are preferentially transmitted from
40 Platypus) for finding single nucleotide and copy number variants as well as recombination events.
42 al instances of meiotic recombination within copy number variants associated with drug resistance, de
43 consistent with the emerging effects of rare copy number variants associated with intellectual disabi
44 been made in the identification of genes and copy number variants associated with syndromic autism, l
45 he genomes of 2312 children known to carry a copy-number variant associated with intellectual disabil
47 ent study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2,
50 onstructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequenci
51 rome, we used genome sequencing to determine copy-number-variant breakpoints in three deletion-bearin
53 de SNP polymorphism data with a novel set of copy number variant calls and gene expression profiles t
54 for both single nucleotide variant (SNV) and copy number variant (CNV) alleles allowed for identifica
55 capture) with variants called by FreeBayes; copy number variant (CNV) analysis (Illumina HumanOmniEx
56 were not found by sequencing, we performed a copy number variant (CNV) analysis to screen for duplica
58 ide single nucleotide polymorphism (SNP) and copy number variant (CNV) association studies of autism
61 ontribution to cocaine dependence of a large copy number variant (CNV) that encompasses part of the N
64 This study sought to determine whether mGluR Copy Number Variants (CNV's) were overrepresented in chi
66 show that this improves detection of genomic copy number variants (CNV) in array CGH experiments comp
67 previously associated rare, exonic deletion copy number variants (CNV) with recurrent depressive dis
68 assessed the parent of origin of the 16p11.2 copy-number variant (CNV) and the presence of additional
73 are under-represented in neurodevelopmental copy number variants (CNVs) (P<2.2 x 10(-10)), suggestin
74 t hidden Markov model to combine evidence of copy number variants (CNVs) across multiple carriers, Co
75 o determine whether heterozygous carriers of copy number variants (CNVs) affecting exons of the PARK2
76 ies (GWAS) have identified common SNPs, rare copy number variants (CNVs) and a large polygenic contri
77 evidence exists for the association between copy number variants (CNVs) and Autism Spectrum Disorder
78 examples of robust associations between rare copy number variants (CNVs) and complex continuous human
79 loci, but it is also evident from studies of copy number variants (CNVs) and from exome-sequencing st
80 Here we show that the frequency of de novo copy number variants (CNVs) and insertion/deletion event
82 dicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic
88 come more appealing since the discovery that copy number variants (CNVs) are a substantial source of
95 A small number of rare, recurrent genomic copy number variants (CNVs) are known to substantially i
101 that droplet MDA allows for the detection of copy number variants (CNVs) as small as 30 kb in single
102 n (SVD) normalization to discover rare genic copy number variants (CNVs) as well as genotype copy num
104 surprisingly diagnostically nonspecific, and copy number variants (CNVs) associated with schizophreni
105 per subject) than controls for genes within copy number variants (CNVs) associated with SZ or neurod
109 We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectru
110 (ADHD) is highly heritable, and large, rare copy number variants (CNVs) contribute to risk, little i
113 exonic single-nucleotide variants (SNVs) and copy number variants (CNVs) from 2,377 families with aut
116 th the general population, an excess of rare copy number variants (CNVs) has been identified in peopl
122 omosomal deletions and duplications known as copy number variants (CNVs) have been implicated in neur
125 arge (>100 kb), rare (<1% in the population) copy number variants (CNVs) have been shown to confer ri
130 underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with inte
134 umerous studies documenting the relevance of copy number variants (CNVs) in ASD have been published s
136 that there is an increased burden of genomic copy number variants (CNVs) in schizophrenia cases compa
138 In studies of case-parent trios, we define copy number variants (CNVs) in the offspring that differ
141 d up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD et
143 that, on average, an iPSC line manifests two copy number variants (CNVs) not apparent in the fibrobla
146 However, little is known about the effect of copy number variants (CNVs) on lung function, although C
147 to examine the effect of neurodevelopmental copy number variants (CNVs) on the cognitive performance
158 apability to efficiently generate reciprocal copy number variants (CNVs) that mimic NAHR would repres
162 including three carcinomas) had many somatic copy number variants (CNVs) with frequent deletion of CD
163 package to enable genome-wide association of copy number variants (CNVs) with quantitative phenotypes
165 neuroligin 4), including point mutations and copy number variants (CNVs), have been associated with s
167 luding single-nucleotide variants (SNVs) and copy number variants (CNVs), in the non-coding regions o
169 te for other classes of variation, including copy number variants (CNVs), microsatellites, and mobile
170 nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are
182 the copy number of chromosomal DNA segments [copy number variants (CNVs)] have been implicated in hum
186 short stature had a greater global burden of copy-number variants (CNVs) and a greater average CNV le
187 y used for studying human disease, for which copy-number variants (CNVs) are a critical genetic compo
193 t the rates of large-scale (>100 kb) de novo copy-number variants (CNVs) are significantly elevated r
199 ed by genomic disorders due to rare deletion copy-number variants (CNVs) determined to be de novo by
200 ere are many methods available for inferring copy-number variants (CNVs) from next-generation sequenc
204 onstrated an excess of deleterious autosomal copy-number variants (CNVs) in females compared to males
205 gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case C
206 nts with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probabl
209 ss, the role of rare genetic events, such as copy-number variants (CNVs) or rare point mutations, has
212 ol individuals were screened genome wide for copy-number variants (CNVs) that disrupted two genes on
213 ute to the pathogenicity of rare, multigenic copy-number variants (CNVs) that have been observed in p
214 rangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by ext
215 elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recess
216 y-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data.
217 (SNVs), small insertions/deletions (indels), copy-number variants (CNVs), and other structural varian
218 (CMA) can detect genomic imbalances such as copy-number variants (CNVs), but balanced chromosomal ab
220 signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individual
221 etectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a
226 n, 71 rare de novo (n=8) or inherited (n=63) copy-number variants (CNVs; 50 duplications and 21 delet
234 aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic archite
237 majority of single-base changes, indels, and copy number variants distinguishing the coding regions o
239 de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 control
241 ental cases a profoundly increased burden of copy-number variants from these 33 loci and a significan
243 nia susceptibility, and NRXN1, in which rare copy number variants have a greater impact on schizophre
247 approximately 1.2 Mb distal 7q11.23 deletion copy number variant identified in over 20,000 control sa
248 alyses, and module clustering, together with copy number variants implicated in TS, strongly implicat
252 Estimated yields for clinically significant copy number variants in adults with idiopathic intellect
253 d colleagues report an enrichment of de novo copy number variants in bipolar disorder and schizophren
254 tified de novo loss of function mutations or copy number variants in high-confidence ASD-associated g
255 ion of single nucleotide variants and exonic copy number variants in one comprehensive assessment.
256 ted genomic regions are hotspots for somatic copy number variants in the brain and therefore a herita
258 ected children, 10.1% carried a second large copy-number variant in addition to the primary genetic l
259 analyses show six genes that have recurrent copy-number variants in three squamous-cell carcinomas (
260 enomic disorders, each defined by a specific copy-number variant, in which the affected children were
263 esulting from any genetic variant, including copy number variants, indels and single-nucleotide varia
264 A major cause of peripheral neuropathy is a copy number variant involving the Peripheral Myelin Prot
268 As these disorders essentially represent copy number variants of the sex chromosomes, investigati
269 eotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or
272 rphisms in two intergenic regions containing copy number variants on chromosomes 1 and 10 were associ
274 have demonstrated increased load of de novo copy number variants or single nucleotide variants in in
275 nd DNA sequencing has confirmed that de novo copy-number variants or point mutations in protein-codin
276 hism arrays, next-generation sequencing, and copy number variant platforms are accelerating the disco
278 12 genes, p=0.21), but specific genes within copy-number variant regions associated with schizophreni
279 is rapidly accumulating that rare, recurrent copy number variants represent large effect risk factors
280 rences in single-nucleotide polymorphisms or copy number variants, respectively, for differential dis
282 tended to co-occur with a second-site large copy-number variant (Spearman correlation coefficient, 0
283 d both single nucleotide variants and exonic copy number variants, such as hemizygous nonsense, frame
286 n, CNV-seq reported one purported pathogenic copy number variant that was not detected by array CGH.
287 example, single nucleotide polymorphisms and copy number variants that are transmitted or are new mut
288 ping platform provided the ability to survey copy number variants that exist in more copies in Mo17 t
289 as been linked with the acquisition of large copy number variants that provide mutated cells with a g
291 and Sanders et al.) identify several de novo copy-number variants that together account for 5%-8% of
292 previous evidence of overlap with pathogenic copy number variants, the position of the mutation in th
293 ve extended DECIPHER from a database of just copy-number variants to allow upload, annotation and ana
298 chromosome 15q13.3 implicated by a recurrent copy number variant, which predisposes to an array of ps
299 e genomic hybridization was used to identify copy number variants, while exome sequencing was used to
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