An Incomplete Understanding of Human Genetic Variation (Q42728579)

5 November 2017

An Incomplete Understanding of Human Genetic Variation (English)

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5 November 2017

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27053122%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Evan E. Eichler

series ordinal

2

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2 June 2020

2

Evan E Eichler

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5 November 2017

John Huddleston

1

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5 November 2017

language of work or name

English

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publication date

1 April 2016

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5 November 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27053122%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

202

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2 June 2020

issue

4

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2 June 2020

page(s)

1251-1254

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27053122%20AND%20SRC:MED&resulttype=core&format=json

Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Genetic variation and the de novo assembly of human genomes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

An integrated map of structural variation in 2,504 human genomes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

A global reference for human genetic variation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

The UK10K project identifies rare variants in health and disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Global diversity, population stratification, and selection of human copy-number variation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Assembly and diploid architecture of an individual human genome via single-molecule technologies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Assembling large genomes with single-molecule sequencing and locality-sensitive hashing

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Assessing structural variation in a personal genome-towards a human reference diploid genome.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Large multiallelic copy number variations in humans

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

The landscape of human STR variation

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Prioritization of neurodevelopmental disease genes by discovery of new mutations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Structural diversity and African origin of the 17q21.31 inversion polymorphism

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Structural haplotypes and recent evolution of the human 17q21.31 region

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Detection of structural variants and indels within exome data

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Mapping copy number variation by population-scale genome sequencing

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Diversity of human copy number variation and multicopy genes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

A map of human genome variation from population-scale sequencing

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Targeted, haplotype-resolved resequencing of long segments of the human genome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4905539

10.1534/GENETICS.115.180539

16 August 2018

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27053122%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27053122%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

27053122

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27053122%20AND%20SRC:MED&resulttype=core&format=json