标题
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
作者
关键词
-
出版物
NATURE
Volume 604, Issue 7905, Pages 310-315
出版商
Springer Science and Business Media LLC
发表日期
2022-04-07
DOI
10.1038/s41586-022-04558-8
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。- The Need for a Human Pangenome Reference Sequence
- (2021) Karen H. Miga et al. Annual Review of Genomics and Human Genetics
- ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
- (2021) David T. Miller et al. GENETICS IN MEDICINE
- Exome variant discrepancies due to reference-genome differences
- (2021) He Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements
- (2021) Joannella Morales et al. Molecular Genetics & Genomic Medicine
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Expanded encyclopaedias of DNA elements in the human and mouse genomes
- (2020) Jill E. Moore et al. NATURE
- A sensitive assay for dNTPs based on long synthetic oligonucleotides, EvaGreen dye and inhibitor-resistant high-fidelity DNA polymerase
- (2020) Janne Purhonen et al. NUCLEIC ACIDS RESEARCH
- Accessing NCBI data using the NCBI Sequence Viewer and Genome Data Viewer (GDV)
- (2020) Sanjida H. Rangwala et al. GENOME RESEARCH
- GENCODE 2021
- (2020) Adam Frankish et al. NUCLEIC ACIDS RESEARCH
- UniProt: the universal protein knowledgebase in 2021
- (2020) et al. NUCLEIC ACIDS RESEARCH
- Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
- (2019) Anja Thormann et al. Nature Communications
- PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
- (2019) Antonio Rueda Martin et al. NATURE GENETICS
- ClinVar: improvements to accessing data
- (2019) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Eukaryotic core promoters and the functional basis of transcription initiation
- (2018) Vanja Haberle et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Cellular stress alters 3′UTR landscape through alternative polyadenylation and isoform-specific degradation
- (2018) Dinghai Zheng et al. Nature Communications
- A compendium of conserved cleavage and polyadenylation events in mammalian genes
- (2018) Ruijia Wang et al. GENOME RESEARCH
- The human initiator is a distinct and abundant element that is precisely positioned in focused core promoters
- (2017) Long Vo ngoc et al. GENES & DEVELOPMENT
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- (2017) Valerie A. Schneider et al. GENOME RESEARCH
- Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation
- (2017) Shashikant Pujar et al. NUCLEIC ACIDS RESEARCH
- APPRIS 2017: principal isoforms for multiple gene sets
- (2017) Jose Manuel Rodriguez et al. NUCLEIC ACIDS RESEARCH
- Activity-Dependent Regulation of Alternative Cleavage and Polyadenylation During Hippocampal Long-Term Potentiation
- (2017) Mariana M. Fontes et al. Scientific Reports
- FANTOM5 CAGE profiles of human and mouse samples
- (2017) Shuhei Noguchi et al. Scientific Data
- Alternative cleavage and polyadenylation in spermatogenesis connects chromatin regulation with post-transcriptional control
- (2016) Wencheng Li et al. BMC BIOLOGY
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- PAF Complex Plays Novel Subunit-Specific Roles in Alternative Cleavage and Polyadenylation
- (2016) Yan Yang et al. PLoS Genetics
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- Systematic Profiling of Poly(A)+ Transcripts Modulated by Core 3’ End Processing and Splicing Factors Reveals Regulatory Rules of Alternative Cleavage and Polyadenylation
- (2015) Wencheng Li et al. PLoS Genetics
- Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
- (2013) Jacqueline A. L. MacArthur et al. NUCLEIC ACIDS RESEARCH
- A quantitative atlas of polyadenylation in five mammals
- (2012) Adnan Derti et al. GENOME RESEARCH
- PhyloCSF: a comparative genomics method to distinguish protein coding and non-coding regions
- (2011) M. F. Lin et al. BIOINFORMATICS
- FIMO: scanning for occurrences of a given motif
- (2011) Charles E. Grant et al. BIOINFORMATICS
- Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities
- (2010) Sven Heinz et al. MOLECULAR CELL
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started