Detection and interpretation of genomic structural variation in health and disease. (Q38068938)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

review article

1 reference

title

Detection and interpretation of genomic structural variation in health and disease (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Geert Vandeweyer

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Geert Vandeweyer

series ordinal

1

1 reference

28 August 2017

publication date

1 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

21 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

13

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

1

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21 February 2020

page(s)

61-82

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Autism: many genes, common pathways?

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Determination of amplicon boundaries at 20q13.2 in tissue samples of human gastric adenocarcinomas by high-resolution microarray comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

A versatile statistical analysis algorithm to detect genome copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Breakpoint identification and smoothing of array comparative genomic hybridization data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Efficient calculation of interval scores for DNA copy number data analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

ArrayCyGHt: a web application for analysis and visualization of array-CGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

CGH-Explorer: a program for analysis of array-CGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

CGH-Plotter: MATLAB toolbox for CGH-data analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

CGHcall: calling aberrations for array CGH tumor profiles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Detection of gene copy number changes in CGH microarrays using a spatially correlated mixture model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

A statistical approach for array CGH data analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Accurate detection of aneuploidies in array CGH and gene expression microarray data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

A method for calling gains and losses in array CGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Integrating copy number polymorphisms into array CGH analysis using a robust HMM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

cn.FARMS: a latent variable model to detect copy number variations in microarray data with a low false discovery rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Accurate and reliable high-throughput detection of copy number variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

An optimization framework for unsupervised identification of rare copy number variation from SNP array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Detecting copy number variations from array CGH data based on a conditional random field model

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Circular binary segmentation for the analysis of array-based DNA copy number data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Sparse representation and Bayesian detection of genome copy number alterations from microarray data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Integrated study of copy number states and genotype calls using high-density SNP arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Analysis of array CGH data: from signal ratio to gain and loss of DNA regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

A fast and flexible method for the segmentation of aCGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Unsupervised segmentation of continuous genomic data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Multi-platform segmentation for joint detection of copy number variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

PLASQ: a generalized linear model-based procedure to determine allelic dosage in cancer cells from SNP array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Flexible and accurate detection of genomic copy-number changes from aCGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

A shifting level model algorithm that identifies aberrations in array-CGH data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Classification of array CGH data using smoothed logistic regression model

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

A segmental maximum a posteriori approach to genome-wide copy number profiling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Robust smooth segmentation approach for array CGH data analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Denoising array-based comparative genomic hybridization data using wavelets

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

WebaCGH: an interactive online tool for the analysis and display of array comparative genomic hybridisation data

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Using literature-based discovery to identify disease candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

CANDID: a flexible method for prioritizing candidate genes for complex human traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Gene prioritization through genomic data fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Update of the G2D tool for prioritization of gene candidates to inherited diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Accurate distinction of pathogenic from benign CNVs in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

GeneDistiller--distilling candidate genes from linkage intervals

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Walking the interactome for prioritization of candidate disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Génie: literature-based gene prioritization at multi genomic scale

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Analysis of protein sequence and interaction data for candidate disease gene prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

PGMapper: a web-based tool linking phenotype to genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

An integrated approach to inferring gene-disease associations in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

PolySearch: a web-based text mining system for extracting relationships between human diseases, genes, mutations, drugs and metabolites

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloning

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

SNPs3D: candidate gene and SNP selection for association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

SUSPECTS: enabling fast and effective prioritization of positional candidates

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

TOM: enhancement and extension of a tool suite for in silico approaches to multigenic hereditary disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Human disease genes: patterns and predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

DNA sequencing with nanopores

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERM.12.119

21 January 2018

Identifiers

DOI

10.1586/ERM.12.119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23256704%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference