Human copy number variants are enriched in regions of low mappability (Q56894047)

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English	Human copy number variants are enriched in regions of low mappability	No description defined

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instance of

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title

Human copy number variants are enriched in regions of low mappability (English)

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author

Guy A. Rouleau

series ordinal

4

object named as

Guy Rouleau

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Jean Monlong

object named as

Jean Monlong

series ordinal

1

0 references

Guillaume Bourque

series ordinal

6

object named as

Guillaume Bourque

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Patrick Cossette

series ordinal

2

object named as

Patrick Cossette

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Simon L Girard

series ordinal

5

object named as

Simon L Girard

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Caroline Meloche

series ordinal

3

object named as

Caroline Meloche

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language of work or name

English

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publication date

21 August 2018

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published in

Nucleic Acids Research

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volume

46

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issue

14

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page(s)

7236-7249

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copyright license

Creative Commons Attribution-NonCommercial 4.0 International

start time

22 June 2018

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stated in

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Large multiallelic copy number variations in humans

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2 November 2018

Whole-genome sequence variation, population structure and demographic history of the Dutch population

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2 November 2018

LUMPY: a probabilistic framework for structural variant discovery.

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2 November 2018

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2 November 2018

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CNVs conferring risk of autism or schizophrenia affect cognition in controls

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2 November 2018

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

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2 November 2018

Fast computation and applications of genome mappability

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2 November 2018

Detection and interpretation of genomic structural variation in mammals

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2 November 2018

Rare copy number variants are an important cause of epileptic encephalopathies

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2 November 2018

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2 November 2018

Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion

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2 November 2018

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2 November 2018

Efficient algorithms for tandem copy number variation reconstruction in repeat-rich regions

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2 November 2018

Genome structural variation discovery and genotyping

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2 November 2018

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2 November 2018

Mapping copy number variation by population-scale genome sequencing

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2 November 2018

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

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2 November 2018

Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization

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2 November 2018

Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery

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2 November 2018

Towards a comprehensive structural variation map of an individual human genome

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2 November 2018

The landscape of somatic copy-number alteration across human cancers

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2 November 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

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2 November 2018

BLAST+: architecture and applications

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2 November 2018

Large, rare chromosomal deletions associated with severe early-onset obesity

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2 November 2018

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

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2 November 2018

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

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2 November 2018

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2 November 2018

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

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2 November 2018

Every microsatellite is different: Intrinsic DNA features dictate mutagenesis of common microsatellites present in the human genome

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2 November 2018

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

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2 November 2018

Analysis of the largest tandemly repeated DNA families in the human genome

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2 November 2018

Rare chromosomal deletions and duplications increase risk of schizophrenia

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2 November 2018

Paired-end mapping reveals extensive structural variation in the human genome

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Expandable DNA repeats and human disease.

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Structural variation of the human genome

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2 November 2018

Bias of selection on human copy-number variants

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2 November 2018

Versatile and open software for comparing large genomes

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2 November 2018

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

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2 November 2018

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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2 November 2018

Identifiers

DOI

10.1093/NAR/GKY538

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PMC publication ID

6101599

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PubMed publication ID

30137632

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