Example of Human Genetics format
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Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format
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Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format Example of Human Genetics format
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open access Open Access ISSN: 3406717 e-ISSN: 14321203
recommended Recommended

Human Genetics — Template for authors

Publisher: Springer
Categories Rank Trend in last 3 yrs
Genetics (clinical) #9 of 87 up up by 2 ranks
Genetics #36 of 325 up up by 1 rank
journal-quality-icon Journal quality:
High
calendar-icon Last 4 years overview: 401 Published Papers | 3820 Citations
indexed-in-icon Indexed in: Scopus
last-updated-icon Last updated: 13/07/2020
Insights & related journals
General info
Top papers
Popular templates
Get started guide
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FAQ

Journal Performance & Insights

  • Impact Factor
  • CiteRatio
  • SJR
  • SNIP

Impact factor determines the importance of a journal by taking a measure of frequency with which the average article in a journal has been cited in a particular year.

5.743

10% from 2018

Impact factor for Human Genetics from 2016 - 2019
Year Value
2019 5.743
2018 5.207
2017 3.93
2016 4.637
graph view Graph view
table view Table view

insights Insights

  • Impact factor of this journal has increased by 10% in last year.
  • This journal’s impact factor is in the top 10 percentile category.

CiteRatio is a measure of average citations received per peer-reviewed paper published in the journal.

9.5

1% from 2019

CiteRatio for Human Genetics from 2016 - 2020
Year Value
2020 9.5
2019 9.4
2018 7.8
2017 9.2
2016 9.5
graph view Graph view
table view Table view

insights Insights

  • CiteRatio of this journal has increased by 1% in last years.
  • This journal’s CiteRatio is in the top 10 percentile category.

SCImago Journal Rank (SJR) measures weighted citations received by the journal. Citation weighting depends on the categories and prestige of the citing journal.

2.351

11% from 2019

SJR for Human Genetics from 2016 - 2020
Year Value
2020 2.351
2019 2.637
2018 2.723
2017 2.74
2016 3.077
graph view Graph view
table view Table view

insights Insights

  • SJR of this journal has decreased by 11% in last years.
  • This journal’s SJR is in the top 10 percentile category.

Source Normalized Impact per Paper (SNIP) measures actual citations received relative to citations expected for the journal's category.

1.869

11% from 2019

SNIP for Human Genetics from 2016 - 2020
Year Value
2020 1.869
2019 1.689
2018 1.324
2017 1.432
2016 1.577
graph view Graph view
table view Table view

insights Insights

  • SNIP of this journal has increased by 11% in last years.
  • This journal’s SNIP is in the top 10 percentile category.

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Human Genetics

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Springer

Human Genetics

Human Genetics presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and genomic imaging;...... Read More

Genetics(clinical)

Medicine

i
Last updated on
13 Jul 2020
i
ISSN
0340-6717
i
Impact Factor
High - 1.257
i
Open Access
Yes
i
Sherpa RoMEO Archiving Policy
Green faq
i
Plagiarism Check
Available via Turnitin
i
Endnote Style
Download Available
i
Bibliography Name
SPBASIC
i
Citation Type
Author Year
(Blonder et al, 1982)
i
Bibliography Example
Beenakker CWJ (2006) Specular andreev reflection in graphene. Phys Rev Lett 97(6):067,007, URL 10.1103/PhysRevLett.97.067007

Top papers written in this journal

Journal Article DOI: 10.1007/BF00210743
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.
Michael Krawczak1, Jochen Reiss2, David Neil Cooper
01 Sep 1992 - Human Genetics

Abstract:

A total of 101 different examples of point mutations, which lie in the vicinity of mRNA splice junctions, and which have been held to be responsible for a human genetic disease by altering the accuracy of efficiency of mRNA splicing, have been collated. These data comprise 62 mutations at 5′ splice sites, 26 at 3′ splice site... A total of 101 different examples of point mutations, which lie in the vicinity of mRNA splice junctions, and which have been held to be responsible for a human genetic disease by altering the accuracy of efficiency of mRNA splicing, have been collated. These data comprise 62 mutations at 5′ splice sites, 26 at 3′ splice sites and 13 that result in the creation of novel splice sites. It is estimated that up to 15% of all point mutations causing human genetic disease result in an mRNA splicing defect. Of the 5′ splice site mutations, 60% involved the invariant GT dinucleotide; mutations were found to be non-randomly distributed with an excess over expectation at positions +1 and +2, and apparent deficiencies at positions −1 and −2. Of the 3′ splice site mutations, 87% involved the invariant AG dinucleotide; an excess of mutations over expectation was noted at position -2. This non-randomness of mutation reflects the evolutionary conservation apparent in splice site consensus sequences drawn up previously from primate genes, and is most probably attributable to detection bias resulting from the differing phenotypic severity of specific lesions. The spectrum of point mutations was also drastically skewed: purines were significantly overrepresented as substituting nucleotides, perhaps because of steric hindrance (e.g. in U1 snRNA binding at 5′ splice sites). Furthermore, splice sites affected by point mutations resulting in human genetic disease were markedly different from the splice site consensus sequences. When similarity was quantified by a ‘consensus value’, both extremely low and extremely high values were notably absent from the wild-type sequences of the mutated splice sites. Splice sites of intermediate similarity to the consensus sequence may thus be more prone to the deleterious effects of mutation. Regarding the phenotypic effects of mutations on mRNA splicing, exon skipping occurred more frequently than cryptic splice site usage. Evidence is presented that indicates that, at least for 5′ splice site mutations, cryptic splice site usage is favoured under conditions where (1) a number of such sites are present in the immediate vicinity and (2) these sites exhibit sufficient homology to the splice site consensus sequence for them to be able to compete successfully with the mutated splice site. The novel concept of a “potential for cryptic splice site usage” value was introduced in order to quantify these characteristics, and to predict the relative proportion of exon skipping vs cryptic splice site utilization consequent to the introduction of a mutation at a normal splice site. read more read less

Topics:

Splice site mutation (71%)71% related to the paper, splice (62%)62% related to the paper, Consensus sequence (53%)53% related to the paper, Exon skipping (52%)52% related to the paper, Point mutation (52%)52% related to the paper
1,282 Citations
open accessOpen access Journal Article DOI: 10.1007/BF00281458
Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissues. A novel approach to testing for induced point mutations in mammals.
Joachim Klose1
01 Jan 1975 - Human Genetics

Abstract:

The protein-mapping method which combines isoelectric focusing in acrylamide gel and gel electrophoresis was previously used mainly for the separation of plant proteins and human serum proteins. We investigated with this technique soluble proteins of mouse tissues (whole embryos, the liver of fetal and adult mice, kidneys) an... The protein-mapping method which combines isoelectric focusing in acrylamide gel and gel electrophoresis was previously used mainly for the separation of plant proteins and human serum proteins. We investigated with this technique soluble proteins of mouse tissues (whole embryos, the liver of fetal and adult mice, kidneys) and the proteins of mouse serum. The technique was tested under a number of different conditions to find those best for our purpose; they may represent some general improvements in the method. The protein patterns show high resolution and excellent reproducibility. About 275 spots were found for fetal liver, about 230 for whole embryos (day 14 p.c.) and about 100 for serum. The fact that a high number of protein spots can be evaluated by a single and comparatively simple experiment suggests that this method may be useful as an assay system for induced point mutations. The protein patterns demonstrated are compared and discgs of dominant lethal examinations after acute and subacute application of these three substances. read more read less

Topics:

Isoelectric focusing (63%)63% related to the paper, Gel electrophoresis (56%)56% related to the paper, Blood proteins (54%)54% related to the paper, Polyacrylamide gel electrophoresis (52%)52% related to the paper
1,150 Citations
open accessOpen access Journal Article DOI: 10.1007/BF01790090
Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
Peter Lichter1, Thomas Cremer1, Jonathan A. Borden1, Laura Manuelidis1, David C. Ward1
01 Nov 1988 - Human Genetics

Abstract:

A method of in situ hybridization for visualizing individual human chromosomes from pter to qter, both in metaphase spreads and interphase nuclei, is reported. DNA inserts from a single chromosomal library are labeled with biotin and partially preannealed with a titrated amount of total human genomic DNA prior to hybridizatio... A method of in situ hybridization for visualizing individual human chromosomes from pter to qter, both in metaphase spreads and interphase nuclei, is reported. DNA inserts from a single chromosomal library are labeled with biotin and partially preannealed with a titrated amount of total human genomic DNA prior to hybridization with cellular or chromosomal preparations. The cross-hybridization of repetitive sequences to nontargeted chromosomes can be markedly suppressed under appropriate preannealing conditions. The remaining single-stranded DNA is hybridized to specimens of interest and detected with fluorescent or enzymelabeled avidin conjugates following post-hybridization washes. DNA inserts from recombinant libraries for chromosomes 1, 4, 7, 8, 13, 14, 18, 20, 21, 22, and X were assessed for their ability to decorate specifically their cognate chromosome; most libraries proved to be highly specific. Quantitative densitometric analyses indicated that the ratio of specific to nonspecific hybridization signal under optimal preannealing conditions was at least 8:1. Interphase nuclei showed a cohesive territorial organization of chromosomal domains, and laserscanning confocal fluorescence microscopy was used to aid the 3-D visualization of these domains. This method should be useful for both karyotypic studies and for the analysis of chromosome topography in interphase cells. read more read less

Topics:

Hybridization probe (56%)56% related to the paper, Genomic library (55%)55% related to the paper, Metaphase (54%)54% related to the paper, Chromosome (53%)53% related to the paper, In situ hybridization (53%)53% related to the paper
View PDF
1,124 Citations
open accessOpen access Journal Article DOI: 10.1007/S00439-013-1358-4
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D. Stenson1, Matthew Mort1, Edward V. Ball1, Katy Shaw1, Andrew David Phillips1, David Neil Cooper1
01 Jan 2014 - Human Genetics

Abstract:

The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulat... The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH. read more read less

Topics:

Gene mutation (61%)61% related to the paper, Human genetics (51%)51% related to the paper, Personal genomics (50%)50% related to the paper, Mutation (genetic algorithm) (50%)50% related to the paper, Germline mutation (50%)50% related to the paper
View PDF
1,098 Citations
open accessOpen access Journal Article DOI: 10.1007/S004390050816
A functional polymorphism in the monoamine oxidase A gene promoter
Sue Z. Sabol1, Stella Hu1, Dean H. Hamer1
01 Sep 1998 - Human Genetics

Abstract:

We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in linkage dise... We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in linkage disequilibrium with other MAOA and MAOB gene markers and displays significant variations in allele frequencies across ethnic groups. The polymorphism has been shown to affect the transcriptional activity of the MAOA gene promoter by gene fusion and transfection experiments involving three different cell types. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2–10 times more efficiently than those with 3 or 5 copies of the repeat, suggesting an optimal length for the regulatory region. This promoter region polymorphism may be useful as both a functional and an anonymous genetic marker for MAOA. read more read less

Topics:

Monoamine oxidase A (55%)55% related to the paper, Monoamine oxidase B (54%)54% related to the paper, Gene (51%)51% related to the paper, Promoter (51%)51% related to the paper, Genetic marker (51%)51% related to the paper
1,045 Citations
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Human Genetics format uses SPBASIC citation style.

Automatically format and order your citations and bibliography in a click.

SciSpace allows imports from all reference managers like Mendeley, Zotero, Endnote, Google Scholar etc.

Frequently asked questions

Absolutely not! With our tool, you can freely write without having to focus on LaTeX. You can write your entire paper as per the Human Genetics guidelines and autoformat it.

Yes. The template is fully compliant as per the guidelines of this journal. Our experts at SciSpace ensure that. Also, if there's any update in the journal format guidelines, we take care of it and include that in our algorithm.

Sure. We support all the top citation styles like APA style, MLA style, Vancouver style, Harvard style, Chicago style, etc. For example, in case of this journal, when you write your paper and hit autoformat, it will automatically update your article as per the Human Genetics citation style.

You can avail our Free Trial for 7 days. I'm sure you'll find our features very helpful. Plus, it's quite inexpensive.

Yup. You can choose the right template, copy-paste the contents from the word doc and click on auto-format. You'll have a publish-ready paper that you can download at the end.

A matter of seconds. Besides that, our intuitive editor saves a load of your time in writing and formating your manuscript.

One little Google search can get you the Word template for any journal. However, why do you need a Word template when you can write your entire manuscript on SciSpace, autoformat it as per Human Genetics's guidelines and download the same in Word, PDF and LaTeX formats? Try us out!.

Absolutely! You can do it using our intuitive editor. It's very easy. If you need help, you can always contact our support team.

SciSpace is an online tool for now. We'll soon release a desktop version. You can also request (or upvote) any feature that you think might be helpful for you and the research community in the feature request section once you sign-up with us.

Sure. You can request any template and we'll have it up and running within a matter of 3 working days. You can find the request box in the Journal Gallery on the right sidebar under the heading, "Couldn't find the format you were looking for?".

After you have written and autoformatted your paper, you can download it in multiple formats, viz., PDF, Docx and LaTeX.

To be honest, the answer is NO. The impact factor is one of the many elements that determine the quality of a journal. Few of those factors the review board, rejection rates, frequency of inclusion in indexes, Eigenfactor, etc. You must assess all the factors and then take the final call.

SHERPA/RoMEO Database

We have extracted this data from Sherpa Romeo to help our researchers understand the access level of this journal. The following table indicates the level of access a journal has as per Sherpa Romeo Archiving Policy.

RoMEO Colour Archiving policy
Green Can archive pre-print and post-print or publisher's version/PDF
Blue Can archive post-print (ie final draft post-refereeing) or publisher's version/PDF
Yellow Can archive pre-print (ie pre-refereeing)
White Archiving not formally supported
FYI:
  1. Pre-prints as being the version of the paper before peer review and
  2. Post-prints as being the version of the paper after peer-review, with revisions having been made.

The 5 most common citation types in order of usage are:.

S. No. Citation Style Type
1. Author Year
2. Numbered
3. Numbered (Superscripted)
4. Author Year (Cited Pages)
5. Footnote

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After uploading your paper on SciSpace, you would see a button to request a journal submission service for Human Genetics.

Each submission service is completed within 4 - 5 working days.

Yes. SciSpace provides this functionality.

After signing up, you would need to import your existing references from Word or .bib file.

SciSpace would allow download of your references in Human Genetics Endnote style, according to springer guidelines.

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