Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR
出版年份 2020 全文链接
标题
Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR
作者
关键词
-
出版物
GENOME RESEARCH
Volume 30, Issue 5, Pages 724-735
出版商
Cold Spring Harbor Laboratory
发表日期
2020-05-19
DOI
10.1101/gr.255273.119
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Characterizing the Major Structural Variant Alleles of the Human Genome
- (2019) Peter A. Audano et al. CELL
- Genome maps across 26 human populations reveal population-specific patterns of structural variation
- (2019) Michal Levy-Sakin et al. Nature Communications
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- scoreInvHap: Inversion genotyping for genome-wide association studies
- (2019) Carlos Ruiz-Arenas et al. PLoS Genetics
- Evolutionary and functional impact of common polymorphic inversions in the human genome
- (2019) Carla Giner-Delgado et al. Nature Communications
- npInv: accurate detection and genotyping of inversions using long read sub-alignment
- (2018) Haojing Shao et al. BMC BIOINFORMATICS
- Eco-Evolutionary Genomics of Chromosomal Inversions
- (2018) Maren Wellenreuther et al. TRENDS IN ECOLOGY & EVOLUTION
- Current and Emerging Applications of Droplet Digital PCR in Oncology
- (2017) Susana Olmedillas-López et al. Molecular Diagnosis & Therapy
- Genetic effects on gene expression across human tissues
- (2017) François Aguet et al. NATURE
- Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability
- (2017) Christina Grau et al. PLoS One
- Characterizing polymorphic inversions in human genomes by single-cell sequencing
- (2016) Ashley D. Sanders et al. GENOME RESEARCH
- Discovery and genotyping of structural variation from long-read haploid genome sequence data
- (2016) John Huddleston et al. GENOME RESEARCH
- Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution
- (2016) David Vicente-Salvador et al. HUMAN MOLECULAR GENETICS
- Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
- (2016) Linda M Boettger et al. NATURE GENETICS
- Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
- (2016) G David Poznik et al. NATURE GENETICS
- The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
- (2016) Jacqueline MacArthur et al. NUCLEIC ACIDS RESEARCH
- A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
- (2016) Jayne Y. Hehir-Kwa et al. Nature Communications
- Human inversions and their functional consequences
- (2015) Marta Puig et al. Briefings in Functional Genomics
- Identification of Novel Fusion Genes in Testicular Germ Cell Tumors
- (2015) A. M. Hoff et al. CANCER RESEARCH
- FAPI: Fast and accurate P-value Imputation for genome-wide association study
- (2015) Johnny SH Kwan et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism
- (2015) Joao M. Alves et al. Genome Biology and Evolution
- Complexity and diversity ofF8genetic variations in the 1000 genomes
- (2015) J. N. Li et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Large multiallelic copy number variations in humans
- (2015) Robert E Handsaker et al. NATURE GENETICS
- Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases
- (2015) Yun R Li et al. NATURE MEDICINE
- Following the footprints of polymorphic inversions on SNP data: from detection to association tests
- (2015) Alejandro Cáceres et al. NUCLEIC ACIDS RESEARCH
- Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript
- (2015) Marta Puig et al. PLoS Genetics
- Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
- (2015) Christine R. Beck et al. PLoS Genetics
- A Rapid Molecular Approach for Chromosomal Phasing
- (2015) John F. Regan et al. PLoS One
- A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity
- (2014) Juan R. González et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence
- (2014) Cristina Aguado et al. PLoS Genetics
- Multiplexed Target Detection Using DNA-Binding Dye Chemistry in Droplet Digital PCR
- (2013) Geoffrey P. McDermott et al. ANALYTICAL CHEMISTRY
- Transcriptome and genome sequencing uncovers functional variation in humans
- (2013) Tuuli Lappalainen et al. NATURE
- Absolute quantification by droplet digital PCR versus analog real-time PCR
- (2013) Christopher M Hindson et al. NATURE METHODS
- InvFEST, a database integrating information of polymorphic inversions in the human genome
- (2013) Alexander Martínez-Fundichely et al. NUCLEIC ACIDS RESEARCH
- Highly Precise Measurement of HIV DNA by Droplet Digital PCR
- (2013) Matthew C. Strain et al. PLoS One
- Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold
- (2012) Androniki Menelaou et al. BIOINFORMATICS
- Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner
- (2012) Simone de Jong et al. BMC GENOMICS
- The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism
- (2012) Maximilian P.A. Salm et al. GENOME RESEARCH
- Structural diversity and African origin of the 17q21.31 inversion polymorphism
- (2012) Karyn Meltz Steinberg et al. NATURE GENETICS
- Structural haplotypes and recent evolution of the human 17q21.31 region
- (2012) Linda M Boettger et al. NATURE GENETICS
- FLNA genomic rearrangements cause periventricular nodular heterotopia
- (2012) K. R. Clapham et al. NEUROLOGY
- dbVar and DGVa: public archives for genomic structural variation
- (2012) Ilkka Lappalainen et al. NUCLEIC ACIDS RESEARCH
- Investigation of Inversion Polymorphisms in the Human Genome Using Principal Components Analysis
- (2012) Jianzhong Ma et al. PLoS One
- Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over
- (2011) Pengfei Liu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
- (2011) Francesca Fusco et al. HUMAN MOLECULAR GENETICS
- Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
- (2011) Claudia M B Carvalho et al. NATURE GENETICS
- Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases
- (2011) Vincent Plagnol et al. PLoS Genetics
- How and Why Chromosome Inversions Evolve
- (2010) Mark Kirkpatrick PLOS BIOLOGY
- Characterization of six human disease-associated inversion polymorphisms
- (2009) Francesca Antonacci et al. HUMAN MOLECULAR GENETICS
- High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping
- (2009) Daniel J Turner et al. Nature Protocols
- Revisiting the Impact of Inversions in Evolution: From Population Genetic Markers to Drivers of Adaptive Shifts and Speciation?
- (2008) Ary A. Hoffmann et al. Annual Review of Ecology Evolution and Systematics
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Evolutionary toggling of the MAPT 17q21.31 inversion region
- (2008) Michael C Zody et al. NATURE GENETICS
- A common sequence motif associated with recombination hot spots and genome instability in humans
- (2008) Simon Myers et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search