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科研机构
北京大学 [18]
内容类型
期刊论文 [14]
其他 [4]
发表日期
2017 [4]
2016 [4]
2015 [3]
2014 [3]
2013 [2]
2011 [2]
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共18条,第1-10条
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专题:北京大学
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Pysim-sv: a package for simulating structural variation data with GC-biases
其他
2017-01-01
Xia, Yuchao
;
Liu, Yun
;
Deng, Minghua
;
Xi, Ruibin
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2017/12/03
Copy number variation
Translocation
Breakpoints
Next-generation sequencing
SOMATIC MUTATIONS
CANCER
FRAMEWORK
CATALOG
GENOMES
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
期刊论文
HUMAN MUTATION, 2017
Dou, Yanmei
;
Yang, Xiaoxu
;
Li, Ziyi
;
Wang, Sheng
;
Zhang, Zheng
;
Ye, Adam Yongxin
;
Yan, Linlin
;
Yang, Changhong
;
Wu, Qixi
;
Li, Jiarui
;
Zhao, Boxun
;
Huang, August Yue
;
Wei, Liping
收藏
  |  
浏览/下载:121/0
  |  
提交时间:2017/12/03
autism spectrum disorder
autistic traits
parental mosaicism
single-nucleotide mosaicism
DE-NOVO MUTATIONS
INTERACTION NETWORKS
SOMATIC MOSAICISM
DRAVET SYNDROME
HUMAN-DISEASE
GENETIC RISK
HUMAN BRAIN
EVOLUTION
PATTERNS
GENOME
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Huang, August Yue
;
Zhang, Zheng
;
Ye, Adam Yongxin
;
Dou, Yanmei
;
Yan, Linlin
;
Yang, Xiaoxu
;
Zhang, Yuehua
;
Wei, Liping
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2017/12/03
MONOZYGOTIC TWINS DISCORDANT
SOMATIC POINT MUTATIONS
HUMAN CANCER GENOMES
DE-NOVO MUTATIONS
WHOLE-GENOME
COPY NUMBER
CLONAL HEMATOPOIESIS
HUMAN TISSUES
VARIANT
IDENTIFICATION
Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq
期刊论文
NATURE COMMUNICATIONS, 2017
Wang, Kaile
;
Lai, Shujuan
;
Yang, Xiaoxu
;
Zhu, Tianqi
;
Lu, Xuemei
;
Wu, Chung-I
;
Ruan, Jue
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/03
SHORT SEQUENCE READS
RARE MUTATIONS
PARALLEL
CANCER
SAMPLES
Methods for PTEN in Stem Cells and Cancer Stem Cells
期刊论文
Methods in molecular biology (Clifton, N.J.), 2016
Schubbert Suzanne
;
Jiao Jing
;
Ruscetti Marcus
;
Nakashima Jonathan
;
Wu Shumin
;
Lei Hong
;
Xu Qinzhi
;
Yi Wenkai
;
Zhu Haichuan
;
Wu Hong
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
Cancer stem cells,ES cell,HSC,Leukemia-initiating cell,NSC,PTEN,Prostate cancer stem cell,Stem cell
A gene browser of colorectal cancer with literature evidence and pre-computed regulatory information to identify key tumor suppressors and oncogenes
期刊论文
SCIENTIFIC REPORTS, 2016
Zhao, Min
;
Liu, Yining
;
Huang, Fuda
;
Qu, Hong
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2017/12/04
ACID RECEPTORS
WEB RESOURCE
EXPRESSION
PROFILES
DATABASE
POLYMORPHISMS
ASSOCIATION
BIOMARKER
PATTERNS
GENOMES
Inferring the progression of multifocal liver cancer from spatial and temporal genomic heterogeneity
其他
2016-01-01
Shi, Jie-Yi
;
Xing, Qingfeng
;
Duan, Meng
;
Wang, Zhi-Chao
;
Yang, Liu-Xiao
;
Zhao, Ying-Jun
;
Wang, Xiao-Ying
;
Liu, Yun
;
Deng, Minghua
;
Ding, Zhen-Bin
;
Ke, Ai-Wu
;
Zhou, Jian
;
Fan, Jia
;
Cao, Ya
;
Wang, Jiping
;
Xi, Ruibin
;
Gao, Qiang
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2017/12/03
hepatocellular carcinoma
multifocal tumors
whole-exome sequencing
intratumor heterogeneity
FAT4
HEPATOCELLULAR-CARCINOMA RECURRENCE
INTRATUMOR HETEROGENEITY
SOMATIC MUTATIONS
GENES
IDENTIFICATION
NODULES
FAT4
BIOMARKERS
EVOLUTION
Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants
其他
2016-01-01
Xi, Ruibin
;
Lee, Semin
;
Xia, Yuchao
;
Kim, Tae-Min
;
Park, Peter J.
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2017/12/03
ACUTE MYELOID-LEUKEMIA
LARGE GENE LISTS
SEQUENCING DATA
BREAST-CANCER
STRUCTURAL VARIATION
POPULATION-SCALE
FUSION PARTNER
RECTAL-CANCER
HUMAN COLON
MUTATIONS
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome
期刊论文
HUMAN MUTATION, 2015
Xu, Xiaojing
;
Yang, Xiaoxu
;
Wu, Qixi
;
Liu, Aijie
;
Yang, Xiaoling
;
Ye, Adam Yongxin
;
Huang, August Yue
;
Li, Jiarui
;
Wang, Meng
;
Yu, Zhe
;
Wang, Sheng
;
Zhang, Zhichao
;
Wu, Xiru
;
Wei, Liping
;
Zhang, Yuehua
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
de novo
mosaic
Dravet syndrome
SCN1A
next-generation sequencing
somatic mutation
SEVERE MYOCLONIC EPILEPSY
AUTISM SPECTRUM DISORDERS
HUMAN GENETIC-DISEASE
SOMATIC MOSAICISM
MISSENSE MUTATION
FEBRILE SEIZURES
POINT MUTATIONS
DENOVO MUTATION
MARFAN-SYNDROME
ALPORT-SYNDROME
Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer
期刊论文
BMC GENOMICS, 2015
Gnad, Florian
;
Doll, Sophia
;
Manning, Gerard
;
Arnott, David
;
Zhang, Zemin
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2017/12/03
COMPREHENSIVE MOLECULAR CHARACTERIZATION
INTEGRATED GENOMIC CHARACTERIZATION
NON-HODGKIN-LYMPHOMA
METHYLTRANSFERASE EZH2
LUNG ADENOCARCINOMA
H3K27 METHYLATION
INTERACTIVE TREE
INHIBITION
MUTATIONS
CARCINOMA
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