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。Discovery of Novel Sequences in 1,000 Swedish Genomes
Jesper Eisfeldt et al.
MOLECULAR BIOLOGY AND EVOLUTION (2020)
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Isidro Cortes-Ciriano et al.
NATURE GENETICS (2020)
Fast and accurate long-read assembly with wtdbg2
Jue Ruan et al.
NATURE METHODS (2020)
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
Franck Pellestor
MOLECULAR CYTOGENETICS (2019)
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements
Jesper Eisfeldt et al.
PLOS GENETICS (2019)
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
Cinthya J. Zepeda-Mendoza et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
Alla S. Koltsova et al.
FRONTIERS IN GENETICS (2019)
Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining
Joost Schimmel et al.
TRENDS IN GENETICS (2019)
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Anna Lindstrand et al.
GENOME MEDICINE (2019)
Minimap2: pairwise alignment for nucleotide sequences
Heng Li
BIOINFORMATICS (2018)
Optical mapping reveals a higher level of genomic architecture of chained fusions in cancer
Eva K. F. Chan et al.
GENOME RESEARCH (2018)
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
Zuzana Slamova et al.
HUMAN MUTATION (2018)
Microhomology-mediated end joining: Good, bad and ugly
Ja-Hwan Seol et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2018)
Accurate detection of complex structural variations using single-molecule sequencing
Fritz J. Sedlazeck et al.
NATURE METHODS (2018)
Rapid Low-Cost Assembly of the Drosophila melanogaster Reference Genome Using Low-Coverage, Long-Read Sequencing
Edwin A. Solares et al.
G3-GENES GENOMES GENETICS (2018)
Linked read technology for assembling large complex and polyploid genomes
Alina Ott et al.
BMC GENOMICS (2018)
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Lusine Nazaryan-Petersen et al.
PLOS GENETICS (2018)
Direct determination of diploid genome sequences
Neil I. Weisenfeld et al.
GENOME RESEARCH (2017)
Cell-cycle dynamics of chromosomal organization at single-cell resolution
Takashi Nagano et al.
NATURE (2017)
The helicase domain of Polθ counteracts RPA to promote alt-NHEJ
Pedro A. Mateos-Gomez et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2017)
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
Mircea Cretu Stancu et al.
NATURE COMMUNICATIONS (2017)
The helicase domain of Polθ counteracts RPA to promote alt-NHEJ
Pedro A. Mateos-Gomez et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2017)
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Ryan L. Collins et al.
GENOME BIOLOGY (2017)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
DNA Polymerase : A Unique Multifunctional End-Joining Machine
Samuel J. Black et al.
GENES (2016)
Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring
Mirjam S. de Pagter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Reconstructing Breakage Fusion Bridge Architectures Using Noisy Copy Numbers
Shay Zakov et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2015)
Enamel Hypomineralization and Structural Defects in Amelotin-deficient Mice
Y. Nakayama et al.
JOURNAL OF DENTAL RESEARCH (2015)
The Hitchhiker's guide to Hi-C analysis: Practical guidelines
Bryan R. Lajoie et al.
METHODS (2015)
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and wholegenome sequencing
M. J. Macera et al.
PRENATAL DIAGNOSIS (2015)
Human Structural Variation: Mechanisms of Chromosome Rearrangements
Brooke Weckselblatt et al.
TRENDS IN GENETICS (2015)
The 3D Organization of Chromatin Explains Evolutionary Fragile Genomic Regions
Camille Berthelot et al.
CELL REPORTS (2015)
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Helga Thorvaldsdottir et al.
BRIEFINGS IN BIOINFORMATICS (2013)
Punctuated Evolution of Prostate Cancer Genomes
Sylvan C. Baca et al.
CELL (2013)
Criteria for Inference of Chromothripsis in Cancer Genomes
Jan O. Korbel et al.
CELL (2013)
Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements
Cheng-Zhong Zhang et al.
GENES & DEVELOPMENT (2013)
Homology-mediated end-capping as a primary step of sister chromatid fusion in the breakage-fusion-bridge cycles
Michael Marotta et al.
NUCLEIC ACIDS RESEARCH (2013)
Combinatorics of the Breakage-Fusion-Bridge Mechanism
Marcus Kinsella et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2012)
Tabix: fast retrieval of sequence features from generic TAB-delimited files
Heng Li
BIOINFORMATICS (2011)
Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
Pengfei Liu et al.
CELL (2011)
CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
Alexej Abyzov et al.
GENOME RESEARCH (2011)
Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements
Michael C. Haffner et al.
NATURE GENETICS (2010)
Meiotic segregation of translocations during male gametogenesis
F Morel et al.
INTERNATIONAL JOURNAL OF ANDROLOGY (2004)
BLAT - The BLAST-like alignment tool
WJ Kent
GENOME RESEARCH (2002)
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus
J Dong et al.
EUROPEAN JOURNAL OF ORAL SCIENCES (2000)
分享论文
