Paper · 21486468

Accurate and exact CNV identification from targeted high-throughput sequence data.

Nord AS and 3 others. BMC Genomics, 2011. Cited by 166 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Accurate and exact CNV identification from targeted high-throughput sequence data. Papers, record 21486468. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/21486468

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: Accurate and exact CNV identification from targeted high-throughput sequence data.; PubMed
Journal: BMC Genomics; PubMed
Year: 2011; PubMed
Publication types: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/21486468/; PubMed
DOI: https://doi.org/10.1186/1471-2164-12-184; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC3088570/; PubMed
The journal: https://conductscience.org/library/journal-index/100965258; PubMed
Citations, by iCite: 166; iCite
Relative citation ratio, by iCite: 3.6; iCite
Revised in PubMed: 2022-03-10; PubMed

Authors4

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename
1	Nord AS	Alex S
2	Lee M	Ming
3	King MC	Mary-Claire
4	Walsh T	Tom

Source PubMed

Topics5

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
DNA Copy Number Variations	Major topic
High-Throughput Nucleotide Sequencing	Major topic
Sequence Analysis, DNA	Major topic
DNA
Databases, Genetic

Source PubMed

Grants3

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

Grant, as the record writes it	Agency	Country	NIH project	Stated by	Source
R01 CA175716	NCI NIH HHS	United States	R01CA175716	PubMed and NIH	NIH RePORTER
R01 MH083989	NIMH NIH HHS	United States	R01MH083989	PubMed	NIH RePORTER
T32 ES015459	NIEHS NIH HHS	United States	T32ES015459	PubMed and NIH	NIH RePORTER

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References21

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	19,451,168	Fast and accurate short read alignment with Burrows-Wheeler transform.	Bioinformatics	2009	https://conductscience.org/library/papers/19451168	PubMed
2	18,438,408	Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.	Nat Genet	2008	https://conductscience.org/library/papers/18438408	PubMed
3	20,876,606	SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data.	Bioinformatics	2010	https://conductscience.org/library/papers/20876606	PubMed
4	19,657,104	Sensitive and accurate detection of copy number variants using read depth of coverage.	Genome Res	2009	https://conductscience.org/library/papers/19657104	PubMed
5	19,844,226	Computational methods for discovering structural variation with next-generation sequencing.	Nat Methods	2009	https://conductscience.org/library/papers/19844226	PubMed
6	19,439,515	Mobile elements create structural variation: analysis of a complete human genome.	Genome Res	2009	https://conductscience.org/library/papers/19439515	PubMed
7	19,043,412	High-resolution mapping of copy-number alterations with massively parallel sequencing.	Nat Methods	2009	https://conductscience.org/library/papers/19043412	PubMed
8	19,812,545	Origins and functional impact of copy number variation in the human genome.	Nature	2010	https://conductscience.org/library/papers/19812545	PubMed
9	20,151,403	Massively parallel sequencing of ataxia genes after array-based enrichment.	Hum Mutat	2010	https://conductscience.org/library/papers/20151403	PubMed
10	20,238,032	Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.	Adv Exp Med Biol	2010	https://conductscience.org/library/papers/20238032	PubMed

1 to 10 of 21

See all 21 references

Cited by117

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 166 citations.

PMID	Title	Journal	Year	In Papers	Source
42,740,857	Paired Exome-Based Comprehensive Genomic Profiling and Germline Genetic Testing for Unselected Patients With Colorectal Cancer in a Multicenter Prospective Study.	Gastro Hep Adv	2026	https://conductscience.org/library/papers/42740857	PubMed
42,591,048	Clinicopathological and molecular comparison of eosinophilic solid and cystic renal cell carcinoma and TFEB-amplified renal cell carcinoma: a comprehensive study of 15 cases.	Histopathology	2026	https://conductscience.org/library/papers/42591048	PubMed
40,626,178	Uncovering genetic contributors to developmental delay and intellectual disability: a focus on CNVs in pediatric patients.	Front Genet	2025	https://conductscience.org/library/papers/40626178	PubMed
40,225,156	A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization.	Hum Mutat	2023	https://conductscience.org/library/papers/40225156	PubMed
39,640,791	Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.	Heliyon	2024	https://conductscience.org/library/papers/39640791	PubMed
39,621,529	Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.	Mol Genet Genomic Med	2024	https://conductscience.org/library/papers/39621529	PubMed
39,123,069	Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.	J Hum Genet	2024	https://conductscience.org/library/papers/39123069	PubMed
38,759,516	A phase 2 trial exploring the significance of homologous recombination status in patients with platinum sensitive or platinum resistant relapsed ovarian cancer receiving combination cediranib and olaparib.	Gynecol Oncol	2024	https://conductscience.org/library/papers/38759516	PubMed
38,590,973	Responsiveness of the electrically stimulated cochlear nerve in patients with a missense variant in ACTG1: Preliminary Results.	Front Audiol Otol	2023	https://conductscience.org/library/papers/38590973	PubMed
38,245,625	Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.	Sci Rep	2024	https://conductscience.org/library/papers/38245625	PubMed

1 to 10 of 117

See all 117 cited by

Genes4

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

Gene	NCBI Gene ID	Linked by	In Genes	Source
BRCA1	672	PubTator's text mining	https://conductscience.org/library/genes/672	NCBI Gene
BRCA2	675	PubTator's text mining	https://conductscience.org/library/genes/675	NCBI Gene
CHEK2	11,200	PubTator's text mining	https://conductscience.org/library/genes/11200	NCBI Gene
PTEN	5,728	PubTator's text mining	https://conductscience.org/library/genes/5728	NCBI Gene

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

Sources 11

ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

Each source's terms

ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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