(Q24604693)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Using ERDS to infer copy-number variants in high-coverage genomes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

15

Kevin V Shianna

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

7

Erin L Heinzen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

16

David B Goldstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

4

Dongliang Ge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

5

Jessica M Maia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

12

Curtis Gumbs

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

8

Elizabeth T Cirulli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Mingfu Zhu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Yujun Han

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Qianqian Zhu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Kimberly Pelak

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Min He

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Elizabeth K Ruzzo

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Abanish Singh

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Sheng Feng

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

language of work or name

English

0 references

publication date

30 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

408-421

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

Mapping copy number variation by population-scale genome sequencing

12 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Diversity of human copy number variation and multicopy genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

A map of human genome variation from population-scale sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Towards a comprehensive structural variation map of an individual human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Fast and accurate short read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Accurate whole human genome sequencing using reversible terminator chemistry

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Large recurrent microdeletions associated with schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Rare chromosomal deletions and duplications increase risk of schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Mapping and sequencing of structural variation from eight human genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Copy-number variations associated with neuropsychiatric conditions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

The Sequence Alignment/Map format and SAMtools

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Detection of large-scale variation in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Large-scale copy number polymorphism in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Genomic mapping by fingerprinting random clones: a mathematical analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

The variant call format and VCFtools

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Integrated detection and population-genetic analysis of SNPs and copy number variation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Copy number variation detection and genotyping from exome sequence data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

A comprehensive map of mobile element insertion polymorphisms in humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Genome structural variation discovery and genotyping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

The characterization of twenty sequenced human genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

mrsFAST: a cache-oblivious algorithm for short-read mapping.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Computational methods for discovering structural variation with next-generation sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Personalized copy number and segmental duplication maps using next-generation sequencing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

An initial map of insertion and deletion (INDEL) variation in the human genome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Detecting copy number variation with mated short reads

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

Sensitive and accurate detection of copy number variants using read depth of coverage

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511991

A tutorial on hidden Markov models and selected applications in speech recognition

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2012.07.004

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.07.004

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

release_7sct2zs2qzdcllkm7ddbyvstoe

12 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7sct2zs2qzdcllkm7ddbyvstoe

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

22939633

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22939633%20AND%20SRC:MED&resulttype=core&format=json