Read clouds uncover variation in complex regions of the human genome (Q35749660)

10 August 2017

title

Read clouds uncover variation in complex regions of the human genome (English)

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10 August 2017

6

Robert West

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Serafim Batzoglou

8

object named as

Serafim Batzoglou

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10 August 2017

Alex Bishara

1

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10 August 2017

Yuling Liu

2

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10 August 2017

Ziming Weng

3

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10 August 2017

Dorna Kashef-Haghighi

4

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10 August 2017

Daniel E Newburger

5

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10 August 2017

Arend Sidow

7

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10 August 2017

publication date

18 August 2015

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10 August 2017

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10 August 2017

volume

25

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10 August 2017

issue

10

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10 August 2017

page(s)

1570-1580

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Accurate, multi-kb reads resolve complex populations and detect rare microorganisms

10 August 2017

cites work

1 reference

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MinION nanopore sequencing identifies the position and structure of a bacterial antibiotic resistance island

27 July 2018

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Resolving the complexity of the human genome using single-molecule sequencing

27 July 2018

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Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Comprehensive variation discovery in single human genomes

27 July 2018

1 reference

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Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Refining analyses of copy number variation identifies specific genes associated with developmental delay

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Illumina TruSeq synthetic long-reads empower de novo assembly and resolve complex, highly-repetitive transposable elements

27 July 2018

1 reference

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Whole-genome haplotyping using long reads and statistical methods

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Reconstructing complex regions of genomes using long-read sequencing technology

27 July 2018

1 reference

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A single-molecule long-read survey of the human transcriptome

27 July 2018

1 reference

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Reducing assembly complexity of microbial genomes with single-molecule sequencing

27 July 2018

1 reference

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The genome sequence of the colonial chordate, Botryllus schlosseri

27 July 2018

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An integrated map of genetic variation from 1,092 human genomes

27 July 2018

1 reference

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GENCODE: the reference human genome annotation for The ENCODE Project

27 July 2018

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Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.

27 July 2018

1 reference

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Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score

27 July 2018

1 reference

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Fast gapped-read alignment with Bowtie 2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Modernizing reference genome assemblies

27 July 2018

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Haplotype-resolved genome sequencing of a Gujarati Indian individual.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Diversity of human copy number variation and multicopy genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Functional impact of global rare copy number variation in autism spectrum disorders

27 July 2018

1 reference

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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Genome destabilization by homologous recombination in the germ line

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Sequencing technologies - the next generation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Next-generation DNA sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Large recurrent microdeletions associated with schizophrenia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Strong association of de novo copy number mutations with autism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Global variation in copy number in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Recent segmental duplications in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

The human genome browser at UCSC

27 July 2018

1 reference

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Segmental duplications: organization and impact within the current human genome project assembly

27 July 2018

1 reference

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Sequencing a genome by walking with clone-end sequences: a mathematical analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Genomic mapping by fingerprinting random clones: a mathematical analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

A framework for variation discovery and genotyping using next-generation DNA sequencing data

27 July 2018

1 reference

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Third generation DNA sequencing: pacific biosciences' single molecule real time technology.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Microduplications of 16p11.2 are associated with schizophrenia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

Origins and functional impact of copy number variation in the human genome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4579342

25 September 2018

Identifiers

DOI

10.1101/GR.191189.115

1 reference

10 August 2017

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10 August 2017

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