Found: 27
Select item for more details and to access through your institution.
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis—Further Impact of Heterozygous Immune Disorder Gene Variants?
- Published in:
- Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 7, p. 216, doi. 10.3390/jcdd9070216
- By:
- Publication type:
- Article
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33066-x
- By:
- Publication type:
- Article
REEV: review, evaluate and explain variants.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. W1, p. W148, doi. 10.1093/nar/gkae366
- By:
- Publication type:
- Article
Genome alignment with graph data structures: a comparison.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-99
- By:
- Publication type:
- Article
A novel and well-defined benchmarking method for second generation read mapping.
- Published in:
- BMC Bioinformatics, 2011, v. 12, n. 1, p. 210, doi. 10.1186/1471-2105-12-210
- By:
- Publication type:
- Article
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 370, doi. 10.3390/genes15030370
- By:
- Publication type:
- Article
Next-generation diagnostics and disease-gene discovery with the Exomiser.
- Published in:
- Nature Protocols, 2015, v. 10, n. 12, p. 1, doi. 10.1038/nprot.2015.124
- By:
- Publication type:
- Article
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 758, doi. 10.1111/cge.14059
- By:
- Publication type:
- Article
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 549, doi. 10.1111/cge.13645
- By:
- Publication type:
- Article
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise.
- Published in:
- Bioinformatics, 2022, v. 38, n. 16, p. 3871, doi. 10.1093/bioinformatics/btac418
- By:
- Publication type:
- Article
DigestiFlow: from BCL to FASTQ with ease.
- Published in:
- Bioinformatics, 2020, v. 36, n. 6, p. 1983, doi. 10.1093/bioinformatics/btz850
- By:
- Publication type:
- Article
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63183-5
- By:
- Publication type:
- Article
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 683, doi. 10.1007/s00439-024-02669-y
- By:
- Publication type:
- Article
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
- Published in:
- Human Genetics, 2022, v. 141, n. 11, p. 1785, doi. 10.1007/s00439-022-02461-w
- By:
- Publication type:
- Article
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
- Published in:
- Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6
- By:
- Publication type:
- Article
Genome sequencing in families with congenital limb malformations.
- Published in:
- Human Genetics, 2021, v. 140, n. 8, p. 1229, doi. 10.1007/s00439-021-02295-y
- By:
- Publication type:
- Article
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34053-7
- By:
- Publication type:
- Article
Identification and ranking of recurrent neo-epitopes in cancer.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0611-7
- By:
- Publication type:
- Article
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 972, doi. 10.1002/jimd.12341
- By:
- Publication type:
- Article
PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84919-x
- By:
- Publication type:
- Article
SODAR: managing multiomics study data and metadata.
- Published in:
- GigaScience, 2023, v. 12, n. 1, p. 1, doi. 10.1093/gigascience/giad052
- By:
- Publication type:
- Article
VarFish: comprehensive DNA variant analysis for diagnostics and research.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. W1, p. W162, doi. 10.1093/nar/gkaa241
- By:
- Publication type:
- Article
HLA-MA: simple yet powerful matching of samples using HLA typing results.
- Published in:
- Bioinformatics, 2017, v. 33, n. 14, p. 2241, doi. 10.1093/bioinformatics/btx132
- By:
- Publication type:
- Article
Methods for the detection and assembly of novel sequence in high-throughput sequencing data.
- Published in:
- Bioinformatics, 2015, v. 31, n. 12, p. 1904, doi. 10.1093/bioinformatics/btv051
- By:
- Publication type:
- Article
Fiona: a parallel and automatic strategy for read error correction.
- Published in:
- 2014
- By:
- Publication type:
- Product Review
RazerS 3: Faster, fully sensitive read mapping.
- Published in:
- Bioinformatics, 2012, v. 28, n. 20, p. 2592, doi. 10.1093/bioinformatics/bts505
- By:
- Publication type:
- Article
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
- By:
- Publication type:
- Article