Cargando…

Identification of functional genetic variation in exome sequence analysis

Recent technological advances have allowed us to study individual genomes at a base-pair resolution and have demonstrated that the average exome harbors more than 15,000 genetic variants. However, our ability to understand the biological significance of the identified variants and to connect these o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jaffe, Andrew, Wojcik, Genevieve, Chu, Audrey, Golozar, Asieh, Maroo, Ankit, Duggal, Priya, Klein, Alison P
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Proceedings
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287847/ https://www.ncbi.nlm.nih.gov/pubmed/22373437 http://dx.doi.org/10.1186/1753-6561-5-S9-S13

Ejemplares similares

CoNVEX: copy number variation estimation in exome sequencing data using HMM
por: Amarasinghe, Kaushalya C, et al.
Publicado: (2013)

Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data
por: Sung, Yun Ju, et al.
Publicado: (2011)

Large-scale risk prediction applied to Genetic Analysis Workshop 17 mini-exome sequence data
por: Li, Gengxin, et al.
Publicado: (2011)

Combining effects from rare and common genetic variants in an exome-wide association study of sequence data
por: Aschard, Hugues, et al.
Publicado: (2011)

Genetic Analysis Workshop 17 mini-exome simulation
por: Almasy, Laura, et al.
Publicado: (2011)

Identity-by-descent filtering as a tool for the identification of disease alleles in exome sequence data from distant relatives
por: Akula, Nirmala, et al.
Publicado: (2011)

Case-control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini-exome sequence data
por: Abel, Haley J, et al.
Publicado: (2011)

Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies
por: Gagnon, France, et al.
Publicado: (2011)

Gene-based multiple trait analysis for exome sequencing data
por: Zhao, Jingyuan, et al.
Publicado: (2011)

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

A comparison of whole genome sequencing with exome sequencing for family-based association studies
por: Lacey, Sean, et al.
Publicado: (2014)

Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibrium
por: Duggal, Priya, et al.
Publicado: (2005)

Pairwise shared genomic segment analysis in high-risk pedigrees: application to Genetic Analysis Workshop 17 exome-sequencing SNP data
por: Cai, Zheng, et al.
Publicado: (2011)

Analysis of human mini-exome sequencing data from Genetic Analysis Workshop 17 using a Bayesian hierarchical mixture model
por: Bueno Filho, Julio S, et al.
Publicado: (2011)

Incorporation of protein binding effects into likelihood ratio test for exome sequencing data
por: Zhang, Dongni, et al.
Publicado: (2016)

Performance of random forests and logic regression methods using mini-exome sequence data
por: Kim, Yoonhee, et al.
Publicado: (2011)

A hepatitis B virus (HBV) sequence variation graph improves sequence alignment and sample-specific consensus sequence construction for genetic analysis of HBV
por: Duchen, Dylan, et al.
Publicado: (2023)

Two-stage study designs combining genome-wide association studies, tag single-nucleotide polymorphisms, and exome sequencing: accuracy of genetic effect estimates
por: Faye, Laura L, et al.
Publicado: (2011)

Exploration and comparison of methods for combining population- and family-based genetic association using the Genetic Analysis Workshop 17 mini-exome
por: Fardo, David W, et al.
Publicado: (2011)

Assessment of genetic variation for the LINE-1 retrotransposon from next generation sequence data
por: Rouchka, Eric, et al.
Publicado: (2010)

Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data
por: Simpson, Claire L, et al.
Publicado: (2011)

Incorporating predicted functions of nonsynonymous variants into gene-based analysis of exome sequencing data: a comparative study
por: Wei, Peng, et al.
Publicado: (2011)

Collapsing-based and kernel-based single-gene analyses applied to Genetic Analysis Workshop 17 mini-exome data
por: Li, Lun, et al.
Publicado: (2011)

Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini-exome data
por: Yan, Xiting, et al.
Publicado: (2011)

Identifying rare variants from exome scans: the GAW17 experience
por: Ghosh, Saurabh, et al.
Publicado: (2011)

Normalization of microarray expression data using within-pedigree pool and its effect on linkage analysis
por: Kim, Yoonhee, et al.
Publicado: (2007)

A weighted accumulation test for associating rare genetic variation with quantitative phenotypes
por: Xing, Chuanhua, et al.
Publicado: (2011)

Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits
por: Klein, Alison P, et al.
Publicado: (2005)

Genotyping common and rare variation using overlapping pool sequencing
por: He, Dan, et al.
Publicado: (2011)

Clustering-based identification of clonally-related immunoglobulin gene sequence sets
por: Chen, Zhiliang, et al.
Publicado: (2010)

The impact of genetic structure on sequencing analysis
por: Jadhav, Sneha, et al.
Publicado: (2016)

Pairwise statistical significance of local sequence alignment using multiple parameter sets and empirical justification of parameter set change penalty
por: Agrawal, Ankit, et al.
Publicado: (2009)

Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data
por: Saad, Mohamad, et al.
Publicado: (2011)

Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans
por: Cheung, Vivian G, et al.
Publicado: (2007)

Association of genetic variations and gene expression in a family-based study
por: Pitsillides, Achilleas N., et al.
Publicado: (2016)

Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data
por: Hu, Pingzhao, et al.
Publicado: (2011)

High-resolution genetic mapping with pooled sequencing
por: Edwards, Matthew D, et al.
Publicado: (2012)

Regional Heritability Mapping to identify loci underlying genetic variation of complex traits
por: Riggio, Valentina, et al.
Publicado: (2014)

An improved approach for accurate and efficient calling of structural variations with low-coverage sequence data
por: Zhang, Jin, et al.
Publicado: (2012)

Studying genetic determinants of natural variation in human gene expression using Bayesian ANOVA
por: Cartier, Kevin C, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_dree67qts076f3bofeqnjnc31q