The GENCODE exome: sequencing the complete human exome (Q35108615)

6 August 2017

The GENCODE exome: sequencing the complete human exome (English)

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6 August 2017

10

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13

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6 August 2017

2

Felix Kokocinski

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Anna-Elina Lehesjoki

11

object named as

Anna-Elina Lehesjoki

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6 August 2017

5

Priit Palta

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6 August 2017

14

Aarno Palotie

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6 August 2017

6

Eleanor Drury

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6 August 2017

1

Alison J Coffey

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6 August 2017

Maria S Calafato

3

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6 August 2017

Carol E Scott

4

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6 August 2017

Christopher J Joyce

7

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6 August 2017

Emily M Leproust

8

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6 August 2017

Jen Harrow

9

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6 August 2017

Daniel J Turner

12

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6 August 2017

2 March 2011

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European Journal of Human Genetics

6 August 2017

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6 August 2017

19

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6 August 2017

827-831

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6 August 2017

7

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Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

6 August 2017

start time

2 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.28

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cites work

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

BEDTools: a flexible suite of utilities for comparing genomic features

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Exome sequencing identifies the cause of a mendelian disorder

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Targeted capture and massively parallel sequencing of 12 human exomes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

The Sequence Alignment/Map format and SAMtools

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Next-generation DNA sequencing

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Mapping short DNA sequencing reads and calling variants using mapping quality scores

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

The impact of next-generation sequencing technology on genetics

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

The vertebrate genome annotation (Vega) database

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Genome-wide in situ exon capture for selective resequencing

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Direct selection of human genomic loci by microarray hybridization

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

GENCODE: producing a reference annotation for ENCODE

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

A census of human cancer genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

dbSNP: the NCBI database of genetic variation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137498

Microarray-based genomic selection for high-throughput resequencing.

9 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.28

21 January 2018

Identifiers

DOI

10.1038/EJHG.2011.28

1 reference

release_7duwld7cere7lk2otva3kkx7ki

6 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7duwld7cere7lk2otva3kkx7ki

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

3137498

1 reference

6 August 2017

1 reference