Two-Phase and Family-Based Designs for Next-Generation Sequencing Studies

Two-Phase and Family-Based Designs for Next-Generation Sequencing Studies

The cost of next-generation sequencing is now approaching that of early GWAS panels, but is still out of reach for large epidemiologic studies and the millions of rare variants expected poses challenges for distinguishing causal from non-causal variants. We review two types of designs for sequencing...

Full description

Bibliographic Details
Main Authors:	Duncan C Thomas, Zhao eYang, Fan eYang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2013-12-01
Series:	Frontiers in Genetics
Subjects:	Breast Neoplasms Sequencing colorectal cancer two-phase sampling design rare variant association family-based study
Online Access:	http://journal.frontiersin.org/Journal/10.3389/fgene.2013.00276/full

Similar Items

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach
by: Pratibha Bhai, et al.
Published: (2021-07-01)

The Quest for Rare Variants: Pooled Multiplexed Next Generation Sequencing in Plants
by: Fabio eMarroni, et al.
Published: (2012-06-01)

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing
by: Frédégonde About, et al.
Published: (2019-11-01)

Statistics for Next Generation Sequencing------Meeting Report
by: Hao eWu, et al.
Published: (2012-07-01)

Detecting the Common and Individual Effects of Rare Variants on Quantitative Traits by Using Extreme Phenotype Sampling
by: Ya-Jing Zhou, et al.
Published: (2016-01-01)

Genome Wide Association Study and Next Generation Sequencing: A Glimmer of Light Toward New Possible Horizons in Frontotemporal Dementia Research
by: Miriam Ciani, et al.
Published: (2019-05-01)

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy
by: Miruna Mihaela Micheu, et al.
Published: (2020-12-01)

In Silico Analysis of Novel Titin Non-Synonymous Missense Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy
by: Miruna Mihaela MICHEU, et al.
Published: (2021-09-01)

Attention Should be Drawn to Rare Diseases and Interpretation of Sequence Variants
by: Bei-Sha Tang
Published: (2016-01-01)

Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing
by: Xin Shi, et al.
Published: (2020-01-01)

Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data
by: Yitian Zhou, et al.
Published: (2018-12-01)

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes
by: Iria Roca, et al.
Published: (2018-05-01)

Integrative analysis of functional genomic annotations and sequencing data to identify rare causal variants via hierarchical modeling
by: Marinela eCapanu, et al.
Published: (2015-05-01)

A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort
by: Kathrin Klein, et al.
Published: (2019-01-01)

Whole-Exome Sequencing of Rare Site Endometriosis-Associated Cancer
by: Sonomi Kurose, et al.
Published: (2021-02-01)

Statistical Methodology for Sequence Analysis
by: Adhikari, Kaustubh
Published: (2012)

Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families
by: Nicole D. Dueker, et al.
Published: (2018-02-01)

On Robust Association Testing for Quantitative Traits and Rare Variants
by: Peng Wei, et al.
Published: (2016-12-01)

Exome sequencing in an Italian family with Alzheimer’s disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H
by: Lara Paracchini, et al.
Published: (2018-10-01)

Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants
by: Kyung Kim, et al.
Published: (2015-06-01)

Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance
by: Aquillah M. Kanzi, et al.
Published: (2020-10-01)

Advances in the Genetics of Hypertension: The Effect of Rare Variants
by: Alessia Russo, et al.
Published: (2018-02-01)

DeepSNVMiner: a sequence analysis tool to detect emergent, rare mutations in subsets of cell populations
by: T. Daniel Andrews, et al.
Published: (2016-05-01)

Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico
by: Xinyuan Zhang, et al.
Published: (2019-01-01)

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium
by: Bridget M Lin, et al.
Published: (2021-01-01)

Whole Exome Sequencing Identifies a Novel Predisposing Gene, MAPKAP1, for Familial Mixed Mood Disorder
by: Chunxia Yang, et al.
Published: (2019-02-01)

Next-Generation Sequencing in Order to Better Characterize a BRCA Variant of Uncertain Significance
by: Steven Sorscher, et al.
Published: (2017-07-01)

Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome
by: Zhening Pu, et al.
Published: (2018-11-01)

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next‐generation sequencing
by: Fatima Al Hannan, et al.
Published: (2019-07-01)

Novel applications of next-generation sequencing in breast cancer research
by: Rong Ma, et al.
Published: (2017-09-01)

Detection of Genomic Structural Variants from Next-Generation Sequencing Data
by: Lorenzo eTattini, et al.
Published: (2015-06-01)

Lipoprotein lipase gene sequencing and plasma lipid profile
by: Dilek Pirim, et al.
Published: (2014-01-01)

Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients
by: Péter Balicza, et al.
Published: (2019-05-01)

A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings
by: Simone Maestri, et al.
Published: (2020-12-01)

A Simulation-based Approach to Study Rare Variant Associations Across the Disease Spectrum
by: Banuelos, Rosa
Published: (2013)

Identification of deleterious rare variants in MTTP, PNPLA3, and TM6SF2 in Japanese males and association studies with NAFLD
by: Supichaya Boonvisut, et al.
Published: (2017-09-01)

Three phase stratified sampling with ratio method of estimation
by: Bijoy Kumar Pradhan
Published: (2014-01-01)

A new conceptual framework for investigating complex genetic disease
by: Shobbir eHussain
Published: (2015-11-01)

A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing
by: Jeroen van den Akker, et al.
Published: (2018-04-01)

An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids
by: Xin Geng, et al.
Published: (2019-02-01)