Cargando…

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the same haplotype in an individual, are a clinically and biologically important class of genetic variation. However, existing tools typically do not accurately classify MNVs, and understanding of their mutational o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253413/ https://www.ncbi.nlm.nih.gov/pubmed/32461613 http://dx.doi.org/10.1038/s41467-019-12438-5

Ejemplares similares

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
por: Wang, Qingbo, et al.
Publicado: (2021)

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
por: Whiffin, Nicola, et al.
Publicado: (2020)

Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
por: Whiffin, Nicola, et al.
Publicado: (2021)

Inferring compound heterozygosity from large-scale exome sequencing data
por: Guo, Michael H., et al.
Publicado: (2023)

Transcript expression-aware annotation improves rare variant interpretation
por: Cummings, Beryl B., et al.
Publicado: (2020)

Author Correction: Transcript expression-aware annotation improves rare variant interpretation
por: Cummings, Beryl B., et al.
Publicado: (2021)

The ExAC browser: displaying reference data information from over 60 000 exomes
por: Karczewski, Konrad J., et al.
Publicado: (2017)

CORRIGENDUM (2018; vol 31, no 5, 748-754)
Publicado: (2021)

Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data
por: Cassa, Christopher A., et al.
Publicado: (2017)

P748: IPSS-M PERFORMANCE IN PATIENTS WITH MYELODYSPLASTIC SYNDROME AT THE TIME OF HYPOMETHYLATING AGENT FAILURE
por: Urrutia, Samuel, et al.
Publicado: (2023)

748. Epidemiology and Outcomes of Invasive Fungal Infections Following Civilian Trauma
por: Mazi, Patrick B, et al.
Publicado: (2020)

708 Serratia infections in burn care
por: Rogers, Alan D, et al.
Publicado: (2022)

748 Burn Center Family Needs Study Brings Changes to The Unit Practice
por: Hsu, Naiwei, et al.
Publicado: (2022)

Evaluating drug targets through human loss-of-function genetic variation
por: Minikel, Eric Vallabh, et al.
Publicado: (2020)

Author Correction: Evaluating drug targets through human loss-of-function genetic variation
por: Minikel, Eric Vallabh, et al.
Publicado: (2021)

Synergistic effects of miR-708-5p and miR-708-3p accelerate the progression of osteoporosis
por: Wang, Ruran, et al.
Publicado: (2020)

SAT-748 Advantages and Limitations of an Integrative Measurement for All Serum Androgens and Anti-Androgens
por: Schaufele, Fred J, et al.
Publicado: (2020)

Using high-resolution variant frequencies to empower clinical genome interpretation
por: Whiffin, Nicola, et al.
Publicado: (2017)

SAT-708 The Effect of Soybean Isoflavones in Developing Cerebellum
por: Ariyani, Winda, et al.
Publicado: (2020)

Patterns of 1,748 Unique Human Alloimmune Responses Seen by Simple Machine Learning Algorithms
por: Vittoraki, Angeliki G., et al.
Publicado: (2020)

SUN-748 Functional Characterization of Estrogen-Regulated LncRNA16 in ER+ Breast Cancer
por: Yang, Barbara, et al.
Publicado: (2020)

748 Accidental Thermal Injury From Ignition of Home Oxygen: Is Burn Center Admission Advantageous?
por: Bailey, John, et al.
Publicado: (2023)

Corrigendum: Echinotermes biriba, a new genus and species of soldierless termite from the Colombian and Peruvian Amazon (Termitidae, Apicotermitinae). ZooKeys 748: 21–30. https://doi.org/10.3897/zookeys.748.24253
por: Castro, Daniel, et al.
Publicado: (2020)

Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure
por: Rohanizadegan, Mersedeh, et al.
Publicado: (2017)

Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci
por: Lessard, Samuel, et al.
Publicado: (2017)

ClinVar data parsing
por: Zhang, Xiaolei, et al.
Publicado: (2017)

748. The Changing Epidemiology of Clostridioides difficile Infection and the NAP1/027 Strain in Two Quebec Hospitals
por: Couture, Sandrine, et al.
Publicado: (2021)

Patch testing with the European baseline series and 10 added allergens: Single‐centre study of 748 patients
por: Bizjak, Mojca, et al.
Publicado: (2022)

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
por: Ruderfer, Douglas M., et al.
Publicado: (2016)

Whole genome sequencing data of a clinical Enterococcus gallinarum strain EGR748 from Sabah, Malaysia
por: Mastor, Nur Nashyiroh, et al.
Publicado: (2020)

Relationship of DNA aneuploidy with distinctive features of oral potentially malignant disorders: A cytological analysis of 748 cases
por: Tang, Yanyi, et al.
Publicado: (2022)

Correction to Lancet Child Adolesc Health 2021; 5: 708–18
Publicado: (2021)

miR-708-5p Regulates Myoblast Proliferation and Differentiation
por: Xu, Xueli, et al.
Publicado: (2022)

Visualization of anomalous origin and course of coronary arteries in 748 consecutive symptomatic patients by 64-slice computed tomography angiography
por: von Ziegler, Franz, et al.
Publicado: (2009)

The Effects of Inhaled Steroids on Recurrent Wheeze After Acute Bronchiolitis: A Systematic Review and Meta-Analysis of 748 Patients
por: Green, Patricia, et al.
Publicado: (2015)

Productivity loss due to menstruation-related symptoms: a nationwide cross-sectional survey among 32 748 women
por: Schoep, Mark E, et al.
Publicado: (2019)

748. Does Improving Discharge Documentation Improve Post-Discharge Care for Patients on Outpatient Parenteral Antimicrobial Therapy (OPAT)?
por: Certain, Laura, et al.
Publicado: (2019)

The feasibility of algorithm-based ECG interpretation in remote monitoring – 53,748 recordings from the Dutch HartWacht program
por: Blok, S, et al.
Publicado: (2021)

748. CoVETED Study: Contactless Vitals for Effective Triaging in Emergency Department – A System to Reduce Cross-Infection
por: VARMA, D A N T U L U R U M U R A L I D H A R, et al.
Publicado: (2023)

An exome array study of the plasma metabolome
por: Rhee, Eugene P., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_o566ku6eu7uqvnv4dbqqmls33a