Cargando…

Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data

The dispensability of individual genes for viability has interested generations of geneticists. For some genes it is essential to maintain two functional chromosomal copies, while others may tolerate the loss of one or both copies. Exome sequence data from 60,706 individuals provide sufficient obser...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cassa, Christopher A., Weghorn, Donate, Balick, Daniel J., Jordan, Daniel M., Nusinow, David, Samocha, Kaitlin E., O’Donnell-Luria, Anne, MacArthur, Daniel G., Daly, Mark J., Beier, David R., Sunyaev, Shamil R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618255/ https://www.ncbi.nlm.nih.gov/pubmed/28369035 http://dx.doi.org/10.1038/ng.3831

Ejemplares similares

Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck
por: Balick, Daniel J., et al.
Publicado: (2015)

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects
por: Zou, James, et al.
Publicado: (2016)

A literature review at genome scale: improving clinical variant assessment
por: Cassa, Christopher A., et al.
Publicado: (2018)

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
por: Do, Ron, et al.
Publicado: (2015)

Identification of cancer driver genes based on nucleotide context
por: Dietlein, Felix, et al.
Publicado: (2020)

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

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

Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy
por: Radke, David W., et al.
Publicado: (2021)

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

Computational and statistical approaches to analyzing variants identified by exome sequencing
por: Stitziel, Nathan O, et al.
Publicado: (2011)

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
por: Kosmicki, Jack A., et al.
Publicado: (2017)

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
por: Wang, Qingbo, et al.
Publicado: (2020)

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

The missing link between genetic association and regulatory function
por: Connally, Noah J, et al.
Publicado: (2022)

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
por: Schoech, Armin P., et al.
Publicado: (2019)

The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome
por: Bartha, István, et al.
Publicado: (2015)

Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection
por: Lenz, Tobias L., et al.
Publicado: (2016)

Germline de novo mutation rates on exons versus introns in humans
por: Rodriguez-Galindo, Miguel, et al.
Publicado: (2020)

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

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides
por: Zhang, Sidi, et al.
Publicado: (2018)

Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer
por: D′Antonio, Matteo, et al.
Publicado: (2017)

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia
por: Schröder, Simone, et al.
Publicado: (2020)

Biocomputing enters its adolescence
por: Sunyaev, Shamil
Publicado: (2005)

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
por: Patel, Kashyap A., et al.
Publicado: (2017)

Search for compound heterozygous effects in exome sequence of unrelated subjects
por: Christensen, G Bryce, et al.
Publicado: (2011)

Biventricular Arrhythmogenic Cardiomyopathy Associated with a Novel Heterozygous Plakophilin-2 Early Truncating Variant
por: Çimen, Tolga, et al.
Publicado: (2022)

Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation
por: Alsters, S., et al.
Publicado: (2019)

Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain
por: Li, Xueqing, et al.
Publicado: (2021)

Truncating SOX9 Alterations Are Heterozygous Null Alleles in Genome-Stable Colorectal Cancer
por: DURONIO, G. N., et al.
Publicado: (2022)

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
por: Grimm, Dominik G., et al.
Publicado: (2015)

Non-Nutritive Polyol Sweeteners Differ in Insecticidal Activity When Ingested by Adult Drosophila melanogaster (Diptera: Drosophilidae)
por: O’Donnell, Sean, et al.
Publicado: (2016)

Folding of Truncated Granulin Peptides
por: Takjoo, Rozita, et al.
Publicado: (2020)

Maintenance of Complex Trait Variation: Classic Theory and Modern Data
por: Koch, Evan M., et al.
Publicado: (2021)

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing
por: Engelhardt, Karin R., et al.
Publicado: (2016)

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)

A field theoretic approach to non-equilibrium population genetics in the strong selection regime
por: Balick, Daniel J.
Publicado: (2023)

Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization
por: Sheikh, Taimoor I., et al.
Publicado: (2021)

Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant
por: Costa, Sarah, et al.
Publicado: (2021)

Probing the aggregated effects of purifying selection per individual on 1,380 medical phenotypes in the UK Biobank
por: Vy, Ha My T., et al.
Publicado: (2021)

Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
por: Indugula, Subba Rao, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_a0m0sfa1vvmn4okm5evrukbkdk