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Genomic data sharing in Europe is stumbling—Could a code of conduct prevent its fall?
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- EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201911421
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- Article
Acquisition of chromosome instability is a mechanism to evade oncogene addiction.
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- EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201910941
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- Publication type:
- Article
Systems approaches identify the consequences of monosomy in somatic human cells.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25288-x
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- Publication type:
- Article
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.
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- Nature Biotechnology, 2021, v. 39, n. 3, p. 302, doi. 10.1038/s41587-020-0719-5
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- Article
Comprehensive characterization of complex structural variations in cancer by directly comparing genome sequence reads.
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- Nature Biotechnology, 2014, v. 32, n. 11, p. 1106, doi. 10.1038/nbt.3027
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- Article
Genome assembly and haplotyping with Hi-C.
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- Nature Biotechnology, 2013, v. 31, n. 12, p. 1099, doi. 10.1038/nbt.2764
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- Publication type:
- Article
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
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- Nature Biotechnology, 2010, v. 28, n. 1, p. 47, doi. 10.1038/nbt.1600
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- Publication type:
- Article
Analysis of genomic context: prediction of functional associations from conserved bidirectionally transcribed gene pairs.
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- Nature Biotechnology, 2004, v. 22, n. 7, p. 911, doi. 10.1038/nbt988
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- Publication type:
- Article
Systematic discovery of analogous enzymes in thiamin biosynthesis.
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- Nature Biotechnology, 2003, v. 21, n. 7, p. 790, doi. 10.1038/nbt834
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- Publication type:
- Article
Toward understanding and exploiting tumor heterogeneity.
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- Nature Medicine, 2015, v. 21, n. 8, p. 846, doi. 10.1038/nm.3915
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- Publication type:
- Article
ASHLEYS: automated quality control for single-cell Strand-seq data.
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- Bioinformatics, 2021, v. 37, n. 19, p. 3356, doi. 10.1093/bioinformatics/btab221
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- Publication type:
- Article
TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data.
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- GigaScience, 2020, v. 9, n. 10, p. 1, doi. 10.1093/gigascience/giaa101
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- Publication type:
- Article
Next-generation sequencing-based detection of germline L1-mediated transductions.
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- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2670-x
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- Publication type:
- Article
Phenotypic impact of genomic structural variation: insights from and for human disease.
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- 2013
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- Publication type:
- journal article
Phenotypic impact of genomic structural variation: insights from and for human disease.
- Published in:
- Nature Reviews Genetics, 2013, v. 14, n. 2, p. 125, doi. 10.1038/nrg3373
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- Publication type:
- Article
STRUCTURAL VARIANTS SHUFFLE CHROMATIN TO ACTIVATE GFI1 FAMILY ONCOGENES IN MEDULLOBLASTOMA.
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- Neuro-Oncology, 2014, v. 16, n. suppl_3, p. iii24
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- Publication type:
- Article
Systematic Identification of Determinants for Single-Strand Annealing-Mediated Deletion Formation in Saccharomyces cerevisiae.
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- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 10, p. 3269, doi. 10.1534/g3.117.300165
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- Publication type:
- Article
A cell-based model system links chromothripsis with hyperploidy.
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- Molecular Systems Biology, 2015, v. 11, n. 9, p. n/a, doi. 10.15252/msb.20156505
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- Publication type:
- Article
Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity.
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- PLoS Computational Biology, 2010, v. 6, n. 11, p. 1, doi. 10.1371/journal.pcbi.1000988
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- Publication type:
- Article
Erratum: Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
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- Nature Communications, 2015, v. 6, n. 9, p. 8389, doi. 10.1038/ncomms9389
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- Publication type:
- Article
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
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- Nature Communications, 2015, v. 6, n. 6, p. 7256, doi. 10.1038/ncomms8256
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- Publication type:
- Article
Inversion polymorphism in a complete human genome assembly.
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- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02919-8
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- Publication type:
- Article
Systematic Association of Genes to Phenotypes by Genome and Literature Mining.
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- PLoS Biology, 2005, v. 3, n. 5, p. 815, doi. 10.1371/journal.pbio.0030134
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- Publication type:
- Article
Systematic Association of Genes to Phenotypes by Genome and Literature Mining.
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- PLoS Biology, 2005, v. 3, n. 4, p. 1, doi. 10.1371/journal.pbio.0030134
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- Publication type:
- Article
Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).
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- Genes, Chromosomes & Cancer, 2016, v. 55, n. 9, p. 677, doi. 10.1002/gcc.22369
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- Publication type:
- Article
Distinct genomic aberrations associated with ERG rearranged prostate cancer.
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- Genes, Chromosomes & Cancer, 2009, v. 48, n. 4, p. 366, doi. 10.1002/gcc.20647
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- Publication type:
- Article
Comprehensive genomic profiles of small cell lung cancer.
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- Nature, 2015, v. 524, n. 7563, p. 47, doi. 10.1038/nature14664
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- Article
Data analysis: Create a cloud commons.
- Published in:
- 2015
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- Publication type:
- Opinion
An integrated map of genetic variation from 1,092 human genomes.
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- Nature, 2012, v. 491, n. 7422, p. 56, doi. 10.1038/nature11632
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- Publication type:
- Article
Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
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- 2012
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- Publication type:
- Erratum
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
- Published in:
- Nature, 2012, v. 482, n. 7384, p. 226, doi. 10.1038/nature10833
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- Publication type:
- Article
A supervised hidden markov model framework for efficiently segmenting tiling array data in transcriptional and chIP-chip experiments: systematically incorporating validated biological knowledge.
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- Bioinformatics, 2006, v. 22, n. 24, p. 3016, doi. 10.1093/bioinformatics/btl515
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- Publication type:
- Article
Dense and accurate whole-chromosome haplotyping of individual genomes.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01389-4
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- Publication type:
- Article
ICGC PedBrain - dissecting the genomic complexity underlying medulloblastoma using whole-genome sequencing.
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- 2012
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- Publication type:
- Abstract
A 15q24 microdeletion in transient myeloproliferative disease ( TMD) and acute megakaryoblastic leukaemia ( AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/ AMKL.
- Published in:
- British Journal of Haematology, 2012, v. 157, n. 2, p. 180, doi. 10.1111/j.1365-2141.2012.09028.x
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- Publication type:
- Article
InTAD: chromosome conformation guided analysis of enhancer target genes.
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- BMC Bioinformatics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12859-019-2655-2
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- Publication type:
- Article
A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans.
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- PLoS Genetics, 2011, v. 7, n. 8, p. 1, doi. 10.1371/journal.pgen.1002236
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- Publication type:
- Article
High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution.
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- PLoS Genetics, 2008, v. 4, n. 11, p. 1, doi. 10.1371/journal.pgen.1000249
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- Publication type:
- Article
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
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- Human Mutation, 2016, v. 37, n. 3, p. 257, doi. 10.1002/humu.22939
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- Publication type:
- Article
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 8, p. 1127, doi. 10.1093/hmg/ddn002
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- Publication type:
- Article
Challenges in studying genomic structural variant formation mechanisms: The short-read dilemma and beyond.
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- BioEssays, 2011, v. 33, n. 11, p. 840, doi. 10.1002/bies.201100075
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- Publication type:
- Article
Effects of the COVID-19 pandemic on life scientists.
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- 2020
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- Publication type:
- Editorial
VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing.
- Published in:
- Bioinformatics, 2020, v. 36, n. 4, p. 1267, doi. 10.1093/bioinformatics/btz719
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- Publication type:
- Article
Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing.
- Published in:
- Bioinformatics, 2019, v. 35, n. 14, p. 2489, doi. 10.1093/bioinformatics/bty1007
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- Publication type:
- Article
Strand-seq enables reliable separation of long reads by chromosome via expectation maximization.
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- Bioinformatics, 2018, v. 34, n. 13, p. i115, doi. 10.1093/bioinformatics/bty290
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- Publication type:
- Article
DELLY: structural variant discovery by integrated paired-end and split-read analysis.
- Published in:
- Bioinformatics, 2012, v. 28, n. 18, p. i333, doi. 10.1093/bioinformatics/bts378
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- Publication type:
- Article
A scalable CRISPR/Cas9-based fluorescent reporter assay to study DNA double-strand break repair choice.
- Published in:
- Nature Communications, 2020, v. 11, p. 1, doi. 10.1038/s41467-020-17962-3
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- Publication type:
- Article
Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0449-6
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- Publication type:
- Article