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癫痫外显子组测序研究的知识发现

已有 2840 次阅读 2013-8-13 16:18 |个人分类:知识发现|系统分类:科研笔记| 知识, 外显子

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科研思路来自知识发现

      科研思路来自科研实践、来自文献信息、来自同行交流。 科研思路和科研选题也可以来自知识发现,在我的博客“知识发现栏目” http://blog.sciencenet.cn/home.php?mod=spaceuid=280034do=blogclassid=115378view=mefrom=space 有大量的科学研究知识发现的实例和分析 ...  知识发现

       一项新遗传学研究揭示了与严重儿童癫痫相关的两个新基因,并为确定治疗靶点提供了一种新策略。这项研究采用了一种称之为外显子组测序(exome sequencing)的先进遗传学技术,来搜寻不遗传的新突变。研究结果表明,它或许是发现及证实许多致病基因突变的一种高效的方法。相关论文发表在8月11日的Nature杂志上。

Nature发布外显子组测序新成果  http://www.ebiotrade.com/newsf/2013-8/2013812110114335.htm

 

StartA-LiteratureC-LiteratureB-listFilterLiterature
A-query: exome sequencing
C-query: epilepsy

The B-list contains title words and phrases (terms) that appeared in both the A and the C literature. 58 articles appeared in both literatures and were not included in the process of computing the B-list but can be viewed here. The results of this search are saved under id # 13416 and can be accessed from the start page after you leave this session. There are 460 terms on the current B-list (发现157个基因和蛋白质知识概念 are predicted to be relevant), which is shown ranked according to predicted relevance. The list can be further trimmed down using the filters listed in the left margin.

To assess whether there appears to be a biologically significant relationship between the AB and BC literatures for specific B-terms, please select one or more B-terms and then click the button to view the corresponding AB and BC literatures. Use Ctrl to select multiple B-terms.

 

 

 

 

 

 

http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/edit_b.cgi

job id # 13416 started Tue Aug 13 03:12:23 2013
Max_citations: 50000
Stoplist: /var/www/arrowsmith_uic/data/stopwords_pubmed
Ngram_max: 3
A_query_raw: exome sequencing Tue Aug 13 03:12:30 2013

A query = exome sequencing started Tue Aug 13 03:12:30 2013
A query resulted in 1680 titles
C_query_raw: exome sequencing Tue Aug 13 03:12:32 2013

C: exome sequencing 1680

A: pubmed_query_A 1680

AC: ( exome sequencing ) AND ( exome sequencing ) 1680

C_query_raw: epilepsy Tue Aug 13 03:12:41 2013

C: epilepsy 140710

C_query_raw: epilepsy Tue Aug 13 03:12:41 2013

A: pubmed_query_A 1680

AC: ( exome sequencing ) AND ( epilepsy ) 58

C: epilepsy 140710

A: pubmed_query_A 1680

AC: ( exome sequencing ) AND ( epilepsy ) 58

C_query_raw: epilepsy Tue Aug 13 03:12:43 2013

C: epilepsy 140710

A: pubmed_query_A 1680

AC: ( exome sequencing ) AND ( epilepsy ) 58

C query = epilepsy started Tue Aug 13 03:12:44 2013
C query resulted in 50000 titles
A AND C query resulted in 58 titles
4572 B-terms ready on Tue Aug 13 03:14:17 2013

Sem_filter:
Genes & Molecular Sequences, and Gene & Protein Names
460 B-terms left after filter executed Tue Aug 13 03:14:46 2013

B-list on Tue Aug 13 03:18:21 2013
1 brca1
2 genome wide
3 kcnq2
4 genome sequencing
5 single nucleotide polymorphism
6 joubert syndrome
7 ubiquitin
8 gene encoding
9 transporter gene
10 stat3
11 potassium channel
12 opioid receptor
13 meningioma
14 dystrophin
15 genome project
16 gene autism
17 spinocerebellar ataxia
18 wnt
19 trk
20 candidate gene
21 scn2a
22 ryanodine receptor
23 notch1
24 chromatin remodeling
25 swi
26 quantitative trait locus
27 moyamoya disease
28 pi3k
29 caspase
30 glutamate receptor
31 helix loop helix
32 trna
33 exon
34 polydactyly
35 genomic
36 abcc8
37 myopia
38 congenital cataract
39 gene familial
40 pten
41 alms1
42 snp
43 vhl
44 nkx2-1
45 leptin
46 sod1
47 hydrocephalus
48 mody
49 calcium channel
50 tumor suppressor gene
51 essential tremor
52 lamin
53 intronic
54 glioma
55 susceptibility gene
56 rac1
57 neuroligin
58 genome
59 mitochondrial genome
60 spastic paraplegia
61 trpv4
62 tgfbeta
63 twin
64 cx3cr1
65 retinitis pigmentosa
66 transporter
67 dystonia
68 frameshift
69 whole genome sequencing
70 novel gene
71 genome array
72 kcnj11
73 gene autosomal
74 multiple endocrine neoplasia
75 trait
76 sox2
77 gene paroxysmal
78 receptor gene
79 alu
80 cystatin
81 cdna
82 ssri
83 copy
84 psen1
85 chloride channel
86 hdl
87 slc19a3
88 rbp4
89 autophagy
90 mpl
91 allelic heterogeneity
92 tcf4
93 diabetes
94 trem2
95 reading frame
96 alzheimer disease
97 inflammatory bowel disease
98 gene mutated
99 progressive external ophthalmoplegia
100 aromatase
101 ret
102 tumor suppressor
103 cytokine
104 apoe
105 sirt1
106 enhancer
107 adam10
108 hras
109 helicase
110 tremor
111 cone rod dystrophy
112 kinase
113 il-10
114 q11
115 breast cancer
116 celiac disease
117 mri
118 codon
119 alpha gene
120 cdc42
121 hypertension
122 gene patient
123 related gene
124 igf i
125 van
126 lip
127 rna
128 dna methyltransferase
129 mitochondrial
130 nf kappab
131 kelch
132 spitz
133 chaperone
134 connexin
135 dlx5
136 domain
137 ion
138 grin2a
139 gene associated
140 fgf
141 lepr
142 subunit gene
143 hydroxylase gene
144 locus
145 motor neuron disease
146 imprinted gene
147 lacking
148 cadherin
149 sdha
150 causative gene
151 scn9a
152 hla
153 meta
154 gtpase
155 gfap
156 cyst
157 map

http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/view_b_txt.cgi?ID=13416

基因发现实例

StartA-LiteratureC-LiteratureB-listFilterLiterature
AB literature

 

B-term

 

BC literature

 

exome sequencing kcnq2epilepsy
1: Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 2013
Add to clipboard

 

1: Novel KCNQ2 Mutation in a Large Emirati Family With Benign Familial Neonatal Seizures. 2013
Add to clipboard

2: Ezogabine (KCNQ2/3 channel opener) prevents delayed activation of meningeal nociceptors if given before but not after the occurrence of cortical spreading depression. 2013
Add to clipboard

3: Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. 2013
Add to clipboard

4: Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data. 2013
Add to clipboard

5:KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy. 2012
Add to clipboard

6:KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. 2012
Add to clipboard

7:KCNQ2 Potassium Channel Epileptic Encephalopathy Syndrome: Divorce of an Electro-Mechanical Couple? 2012
Add to clipboard

8: Development and Validation of a Medium-Throughput Electrophysiological Assay for KCNQ2/3 Channel Openers Using QPatch HT. 2012
Add to clipboard

9: Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals. 2012
Add to clipboard

10: Activation of KCNQ2/3 Potassium Channels by Novel Pyrazolo[1,5-a]pyrimidin-7(4H)-One Derivatives. 2011
Add to clipboard

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

http://arrowsmith.psych.uic.edu/cgi-bin/arrowsmith_uic/show_sentences.cgi



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