Cargando…

Whole Genome Interpretation for a Family of Five

Although best practices have emerged on how to analyse and interpret personal genomes, the utility of whole genome screening remains underdeveloped. A large amount of information can be gathered from various types of analyses via whole genome sequencing including pathogenicity screening, genetic ris...

Descripción completa

Detalles Bibliográficos
Autores principales:	Corpas, Manuel, Megy, Karyn, Mistry, Vanisha, Metastasio, Antonio, Lehmann, Edmund
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982663/ https://www.ncbi.nlm.nih.gov/pubmed/33763108 http://dx.doi.org/10.3389/fgene.2021.535123

Ejemplares similares

Implementation of individualised polygenic risk score analysis: a test case of a family of four
por: Corpas, Manuel, et al.
Publicado: (2022)

Editorial: Personal Genomes: Accessing, Sharing, and Interpretation
por: Corpas, Manuel, et al.
Publicado: (2021)

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
por: Abdulkareem, Angham Abdulrhman, et al.
Publicado: (2023)

Analysis of genetic diversity and selection characteristics using the whole genome sequencing data of five buffaloes, including Xilin buffalo, in Guangxi, China
por: Chen, Zhefu, et al.
Publicado: (2023)

Analysis of Autozygosity Using Whole-Genome Sequence Data of Full-Sib Families in Pikeperch (Sander lucioperca)
por: De los Ríos-Pérez, Lidia, et al.
Publicado: (2022)

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects
por: Diboun, Ilhame, et al.
Publicado: (2022)

A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation
por: Pemmasani, Sandhya Kiran, et al.
Publicado: (2020)

Whole Genome Level Analysis of the Wnt and DIX Gene Families in Mice and Their Coordination Relationship in Regulating Cardiac Hypertrophy
por: Gai, Zhongchao, et al.
Publicado: (2021)

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia
por: Yang, Entuan, et al.
Publicado: (2023)

The Importance of Biologic Knowledge and Gene Expression Context for Genomic Data Interpretation
por: Zimmermann, Michael T.
Publicado: (2018)

Whole-Genome Sequencing and Genome-Wide Studies of Spiny Head Croaker (Collichthys lucidus) Reveals Potential Insights for Well-Developed Otoliths in the Family Sciaenidae
por: Gan, Wu, et al.
Publicado: (2021)

Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals
por: Kairov, Ulykbek, et al.
Publicado: (2022)

Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data
por: Ciolfi, Andrea, et al.
Publicado: (2022)

A Distributed Whole Genome Sequencing Benchmark Study
por: Corbett, Richard D., et al.
Publicado: (2020)

Genetic anchoring of whole-genome shotgun assemblies
por: Mascher, Martin, et al.
Publicado: (2014)

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions
por: Paraboschi, Elvezia Maria, et al.
Publicado: (2018)

Whole genome sequencing of a wild swan goose population
por: Ni, Hongyu, et al.
Publicado: (2023)

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China
por: Yang, Binyi, et al.
Publicado: (2021)

Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation
por: Vad, Oliver Bundgaard, et al.
Publicado: (2022)

Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
por: de Azevedo, Pedro Guimarães, et al.
Publicado: (2023)

Whole-Genome Resequencing to Study Brucellosis Susceptibility in Sheep
por: Li, Xiaolong, et al.
Publicado: (2021)

Whole-genome CNV analysis: advances in computational approaches
por: Pirooznia, Mehdi, et al.
Publicado: (2015)

Editorial: Marching Toward 100% Whole Genome Sequencing
por: Shiao, Yih-Horng
Publicado: (2016)

The Whole-Genome Sequencing and Hybrid Assembly of Mytilus coruscus
por: Li, Ronghua, et al.
Publicado: (2020)

Assessing Genomic Diversity and Productivity Signatures in Dianzhong Cattle by Whole-Genome Scanning
por: Zhang, Xianfu, et al.
Publicado: (2021)

Strategies for Obtaining and Pruning Imputed Whole-Genome Sequence Data for Genomic Prediction
por: Ye, Shaopan, et al.
Publicado: (2019)

Whole-Genome-Based Web Genomic Resource for Water Buffalo (Bubalus bubalis)
por: Khan, Aamir, et al.
Publicado: (2022)

Whole-Genome Resequencing of Xiangxi Cattle Identifies Genomic Diversity and Selection Signatures
por: Luo, Xiaoyu, et al.
Publicado: (2022)

Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation
por: Chunn, Lauren M., et al.
Publicado: (2020)

PAGER Web APP: An Interactive, Online Gene Set and Network Interpretation Tool for Functional Genomics
por: Yue, Zongliang, et al.
Publicado: (2022)

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia
por: Hua, Juan, et al.
Publicado: (2018)

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography
por: Cheng, Wan-Yu, et al.
Publicado: (2022)

Whole-Genome Sequencing of the Opportunistic Yeast Pathogen Candida inconspicua Uncovers Its Hybrid Origin
por: Mixão, Verónica, et al.
Publicado: (2019)

A Survey of Copy Number Variation in the Porcine Genome Detected From Whole-Genome Sequence
por: Keel, Brittney N., et al.
Publicado: (2019)

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
por: Greenbaum, Lior, et al.
Publicado: (2019)

Genomic diversity and relationship analyses of endangered German Black Pied cattle (DSN) to 68 other taurine breeds based on whole-genome sequencing
por: Neumann, Guilherme B., et al.
Publicado: (2023)

The Genome Sequence of Alpine Megacarpaea delavayi Identifies Species-Specific Whole-Genome Duplication
por: Yang, Qiao, et al.
Publicado: (2020)

Kernel-based whole-genome prediction of complex traits: a review
por: Morota, Gota, et al.
Publicado: (2014)

Whole Genome Sequencing Identifies Key Genes in Spinal Schwannoma
por: Gao, Xin, et al.
Publicado: (2020)

FluentDNA: Nucleotide Visualization of Whole Genomes, Annotations, and Alignments
por: Seaman, Josiah, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_rv4g0t5nv1pnhh0sj030r0cih5