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科研成果

遗传信息,承载了人类体内的一系列健康或者疾病的信号预警,尽管面临癌症、疾病、传染病等,人类是渺小的。但是科学在进步,针对分子生物信息学等方面,科研成果是层出不穷的(后续会不断更新):

单细胞测序方面:
1.simultaneous profiling of transcriptome and DNA methylome from a single cell.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
2.A single-cell-based platform for copy number variation profiling through digital counting of amplified genomic DNA fragments.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
3.International Standards for Genomes, Transcriptomes, and Metagenomes.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
4.Overcoming confounding plate effects in differential expression analyses of single-cell RNA-seq data.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
5.Single-molecule mtDNA fiber FISH for analyzing numtogenesis.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
6.Single-cell transcriptome conservation in cryopreserved cells and tissues.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
7.Single cell sequencing: a distinct new field.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28220395
8.Comparison of whole genome amplification techniques for human single cell exome sequencing.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28207771
9.Advances in understanding tumour evolution through single-cell sequencing.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28193548
10.Seq-Well: portable, low-cost RNA sequencing of single cells at high throughput.
链接:https://www.ncbi.nlm.nih.gov/pubmed/

转录组
1.G&T-seq: parallel sequencing of single-cell genomes and transcriptomes
链接:https://www.ncbi.nlm.nih.gov/pubmed/
2.whole transcriptome profiling reveals the RNA content of motor axons
链接:https://www.ncbi.nlm.nih.gov/pubmed/
3.Transcriptional sequencing and analysis of major genes involved in the adventitious root formation of mango cotyledon segments.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
4.Detection of Copy Number Alterations Using Single Cell Sequencing.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28287554
5.Visualization and analysis of single-cell RNA-seq data by kernel-based similarity learning.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
6.Single-cell transcriptome conservation in cryopreserved cells and tissues.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
7.Transcriptome analysis of pancreatic cells across distant species highlights novel important regulator genes.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
8.Transcriptome analysis of IL-10-stimulated (M2c) macrophages by next-generation sequencing.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
9.Dynamics of miRNA transcriptome during gonadal development of zebrafish.
链接:https://www.ncbi.nlm.nih.gov/pubmed/
10.Characterization of the Dynamic Transcriptome of a Herpesvirus with Long-read Single Molecule Real-Time Sequencing.
链接:https://www.ncbi.nlm.nih.gov/pubmed/

全基因组:
1.Identification of novel mutations in endometrial cancer patients by whole-exome sequencing.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28339086
2.Detecting gene signature activation in breast cancer in an absolute, single-patient manner.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28327201
3.[Diagnostics in human genetics : Integration of phenotypic and genomic data].
链接:https://www.ncbi.nlm.nih.gov/pubmed/28293716
4.Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28267383
5.Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28263315
6.Short-read whole genome sequencing for determination of antimicrobial resistance mechanisms and capsular serotypes of current invasive Streptococcus agalactiae recovered in the United States.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28257899
7.Whole genome sequence of lactic acid bacterium Pediococcus acidilactici strain S1.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28256390
8.Comprehensive analysis of gene mutation and expression profiles in neuroendocrine carcinomas of the stomach.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28239029
9.Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle.
链接:https://www.ncbi.nlm.nih.gov/pubmed/28222685
10.[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].
链接:https://www.ncbi.nlm.nih.gov/pubmed/28186595
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