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De novoAHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 5, p. 389, doi. 10.1159/000538918
- By:
- Publication type:
- Article
Coloc-stats: a unified web interface to perform colocalization analysis of genomic features.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. W1, p. W186, doi. 10.1093/nar/gky474
- By:
- Publication type:
- Article
Go Get Data (GGD) is a framework that facilitates reproducible access to genomic data.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22381-z
- By:
- Publication type:
- Article
OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00854-6
- By:
- Publication type:
- Article
Nanopore sequencing and assembly of a human genome with ultra-long reads.
- Published in:
- Nature Biotechnology, 2018, v. 36, n. 4, p. 338, doi. 10.1038/nbt.4060
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- Publication type:
- Article
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 381, doi. 10.1038/ng.3245
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- Publication type:
- Article
SpeedSeq: ultra-fast personal genome analysis and interpretation.
- Published in:
- Nature Methods, 2015, v. 12, n. 10, p. 966, doi. 10.1038/nmeth.3505
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- Publication type:
- Article
Pyrobayes: an improved base caller for SNP discovery in pyrosequences.
- Published in:
- Nature Methods, 2008, v. 5, n. 2, p. 179, doi. 10.1038/nmeth.1172
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- Publication type:
- Article
Whole-genome sequencing and variant discovery in C. elegans.
- Published in:
- Nature Methods, 2008, v. 5, n. 2, p. 183, doi. 10.1038/nmeth.1179
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- Publication type:
- Article
Primer-site SNPs mask mutations.
- Published in:
- 2007
- By:
- Publication type:
- Letter
trfermikit: a tool to discover VNTR-associated deletions.
- Published in:
- Bioinformatics, 2022, v. 38, n. 5, p. 1231, doi. 10.1093/bioinformatics/btab805
- By:
- Publication type:
- Article
Unfazed: parent-of-origin detection for large and small de novo variants.
- Published in:
- Bioinformatics, 2021, v. 37, n. 24, p. 4860, doi. 10.1093/bioinformatics/btab454
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- Publication type:
- Article
Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls.
- Published in:
- GigaScience, 2019, v. 8, n. 4, p. N.PAG, doi. 10.1093/gigascience/giz040
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- Publication type:
- Article
SV-plaudit: A cloud-based framework for manually curating thousands of structural variants.
- Published in:
- GigaScience, 2018, v. 7, n. 7, p. N.PAG, doi. 10.1093/gigascience/giy064
- By:
- Publication type:
- Article
Indexcov: fast coverage quality control for whole-genome sequencing.
- Published in:
- GigaScience, 2017, v. 6, n. 11, p. 1, doi. 10.1093/gigascience/gix090
- By:
- Publication type:
- Article
Samplot: a platform for structural variant visual validation and automated filtering.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02380-5
- By:
- Publication type:
- Article
Effective variant filtering and expected candidate variant yield in studies of rare human disease.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00227-3
- By:
- Publication type:
- Article
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0061-8
- By:
- Publication type:
- Article
CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing.
- Published in:
- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0241253
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- Publication type:
- Article
Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.89096
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- Publication type:
- Article
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations.
- Published in:
- PLoS Computational Biology, 2013, v. 9, n. 7, p. 1, doi. 10.1371/journal.pcbi.1003153
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- Publication type:
- Article
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02826-4
- By:
- Publication type:
- Article
Vcfanno: fast, flexible annotation of genetic variants.
- Published in:
- Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-0973-5
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- Publication type:
- Article
Extending reference assembly models.
- Published in:
- Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0587-3
- By:
- Publication type:
- Article
SubcloneSeeker: a computational framework for reconstructing tumor clone structure for cancer variant interpretation and prioritization.
- Published in:
- Genome Biology, 2014, v. 15, n. 8, p. 1, doi. 10.1186/s13059-014-0443-x
- By:
- Publication type:
- Article
LUMPY: A probabilistic framework for structural variant discovery.
- Published in:
- Genome Biology, 2014, v. 15, n. 6, p. 1, doi. 10.1186/gb-2014-15-6-r84
- By:
- Publication type:
- Article
Extensive Recombination-driven Coronavirus Diversification Expands the Pool of Potential Pandemic Pathogens.
- Published in:
- Genome Biology & Evolution, 2022, v. 14, n. 12, p. 1, doi. 10.1093/gbe/evac161
- By:
- Publication type:
- Article
Population Genomic Inferences from Sparse High-Throughput Sequencing of Two Populations of Drosophila melanogaster.
- Published in:
- Genome Biology & Evolution, 2009, v. 1, p. 439, doi. 10.1093/gbe/evp048
- By:
- Publication type:
- Article
Poxviruses capture host genes by LINE-1 retrotransposition.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.63332
- By:
- Publication type:
- Article
Germline mutation rates in young adults predict longevity and reproductive lifespan.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66867-0
- By:
- Publication type:
- Article
Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.
- Published in:
- Genetics, 2024, v. 226, n. 4, p. 1, doi. 10.1093/genetics/iyae013
- By:
- Publication type:
- Article
Regulatory sharing between estrogen receptor α bound enhancers.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 12, p. 6597, doi. 10.1093/nar/gkaa454
- By:
- Publication type:
- Article
Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study.
- Published in:
- PLoS ONE, 2023, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0281934
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- Publication type:
- Article
Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.
- Published in:
- BMC Bioinformatics, 2022, v. 22, n. 14, p. 1, doi. 10.1186/s12859-022-05008-y
- By:
- Publication type:
- Article
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
- Published in:
- BMC Bioinformatics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12859-022-05041-x
- By:
- Publication type:
- Article
XPRESSyourself: Enhancing, standardizing, and automating ribosome profiling computational analyses yields improved insight into data.
- Published in:
- PLoS Computational Biology, 2020, v. 16, n. 1, p. 1, doi. 10.1371/journal.pcbi.1007625
- By:
- Publication type:
- Article
hts-nim: scripting high-performance genomic analyses.
- Published in:
- Bioinformatics, 2018, v. 34, n. 19, p. 3387, doi. 10.1093/bioinformatics/bty358
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- Publication type:
- Article
Mosdepth: quick coverage calculation for genomes and exomes.
- Published in:
- Bioinformatics, 2018, v. 34, n. 5, p. 867, doi. 10.1093/bioinformatics/btx699
- By:
- Publication type:
- Article
cyvcf2: fast, flexible variant analysis with Python.
- Published in:
- Bioinformatics, 2017, v. 33, n. 12, p. 1867, doi. 10.1093/bioinformatics/btx057
- By:
- Publication type:
- Article
Population-based structural variation discovery with Hydra-Multi.
- Published in:
- Bioinformatics, 2015, v. 31, n. 8, p. 1286, doi. 10.1093/bioinformatics/btu771
- By:
- Publication type:
- Article
Population-based structural variation discovery with Hydra-Multi.
- Published in:
- Bioinformatics, 2015, v. 31, n. 7, p. 1286, doi. 10.1093/bioinformatics/btu771
- By:
- Publication type:
- Article
Poretools: a toolkit for analyzing nanopore sequence data.
- Published in:
- Bioinformatics, 2014, v. 30, n. 23, p. 3399, doi. 10.1093/bioinformatics/btu555
- By:
- Publication type:
- Article
Binary Interval Search: a scalable algorithm for counting interval intersections.
- Published in:
- Bioinformatics, 2013, v. 29, n. 1, p. 1, doi. 10.1093/bioinformatics/bts652
- By:
- Publication type:
- Article
Pybedtools: a flexible Python library for manipulating genomic datasets and annotations.
- Published in:
- Bioinformatics, 2011, v. 27, n. 24, p. 3423, doi. 10.1093/bioinformatics/btr539
- By:
- Publication type:
- Article
BamTools: a C++ API and toolkit for analyzing and managing BAM files.
- Published in:
- Bioinformatics, 2011, v. 27, n. 12, p. 1691, doi. 10.1093/bioinformatics/btr174
- By:
- Publication type:
- Article
BEDTools: a flexible suite of utilities for comparing genomic features.
- Published in:
- Bioinformatics, 2010, v. 26, n. 6, p. 841, doi. 10.1093/bioinformatics/btq033
- By:
- Publication type:
- Article
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches.
- Published in:
- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00761-2
- By:
- Publication type:
- Article
Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes.
- Published in:
- 2016
- By:
- Publication type:
- journal article