HMZDelFinder statistics

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Citations per year

Number of citations per year for the bioinformatics software tool HMZDelFinder

Tool usage distribution map

This map represents all the scientific publications referring to HMZDelFinder per scientific context
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Associated diseases

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HMZDelFinder specifications


Unique identifier OMICS_16976
Name HMZDelFinder
Software type Package/Module
Interface Command line interface
Restrictions to use None
Input format BED, RPKM, VCF
Operating system Unix/Linux, Mac OS, Windows
Programming languages R
Computer skills Advanced
Stability Stable
GenomicRanges, DNAcopy, hmzdelfinder, rsubread
Maintained Yes




No version available



  • person_outline James Lupski

Publication for HMZDelFinder

HMZDelFinder citations


Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Genome Med
PMCID: 5664429
PMID: 29089047
DOI: 10.1186/s13073-017-0482-5
call_split See protocol

[…] p:// dbNSFP, OMIM, University of California Santa Cruz (UCSC) Genome Browser, HMZDelfinder, ClinVar, Human Gene Mutation Database (HGMD), […]


Lessons learned from additional research analyses of unsolved clinical exome cases

Genome Med
PMCID: 5361813
PMID: 28327206
DOI: 10.1186/s13073-017-0412-6

[…] ated CNVs; these tools detect a clinically relevant intragenic CNV when at least three contiguous exons are deleted [, ]. Therefore, in addition to these algorithms, we developed an in-house pipeline HMZDelFinder ( [] to detect potential homozygous and hemizygous small intragenic deletions from WES data, including single exon “dropout alleles” that may […]


Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

BMC Med Genomics
PMCID: 4950750
PMID: 27435318
DOI: 10.1186/s12920-016-0208-3

[…] We used CoNIFER [], CoNVex, and HMZDelFinder to predict potential heterozygous and homozygous CNVs based on exome data. Although many subjects have been pre-screened with karyotyping and array CGH, this bioinformatics approach enabl […]

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HMZDelFinder institution(s)
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Norwegian National Unit for Newborn Screening, Division for Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Graduate Program in Diagnostic Genetics, School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, TX, USA; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children’s Hospital, Houston, TX, USA
HMZDelFinder funding source(s)
This work was supported in part by the National Human Genome Research Institute/National Heart Lung and Blood Institute [U54HG006542]; National Human Genome Research Institute grant to Baylor College of Medicine Human Genome Sequencing Center [U54HG003273]; National Institute of Neurological Disorders and Stroke [R01NS05829]; NHGRI, NHBLI, NINDS, all Institutes of the United States National Institutes of Health, the Polish National Science Centre [2014/13/B/NZ2/01248], and the Cancer Prevention & Research Institute of Texas training Program [RP140102].

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