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
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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
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Related Journals

open access Open Access
recommended Recommended

PLOS

Quality:  
High
CiteRatio: 9.0
SJR: 3.587
SNIP: 1.457
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Springer

Quality:  
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CiteRatio: 7.7
SJR: 1.945
SNIP: 0.996
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Springer

Quality:  
High
CiteRatio: 15.2
SJR: 5.564
SNIP: 2.245
open access Open Access

Springer

Quality:  
High
CiteRatio: 4.2
SJR: 0.966
SNIP: 1.086

Journal Performance & Insights

Impact Factor

CiteRatio

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.

A measure of average citations received per peer-reviewed paper published in the journal.

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

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

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

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)

Source Normalized Impact per Paper (SNIP)

Measures weighted citations received by the journal. Citation weighting depends on the categories and prestige of the citing journal.

Measures actual citations received relative to citations expected for the journal's category.

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

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

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

insights Insights

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

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
1,310 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
1,204 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
1,166 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
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1,132 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
1,082 Citations
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Human Genetics format uses SPBASIC citation style.

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Frequently asked questions

1. Can I write Human Genetics in LaTeX?

Absolutely not! Our tool has been designed to help you focus on writing. You can write your entire paper as per the Human Genetics guidelines and auto format it.

2. Do you follow the Human Genetics guidelines?

Yes, the template is compliant with the Human Genetics guidelines. Our experts at SciSpace ensure that. If there are any changes to the journal's guidelines, we'll change our algorithm accordingly.

3. Can I cite my article in multiple styles in Human Genetics?

Of course! We support all the top citation styles, such as APA style, MLA style, Vancouver style, Harvard style, and Chicago style. For example, when you write your paper and hit autoformat, our system will automatically update your article as per the Human Genetics citation style.

4. Can I use the Human Genetics templates for free?

Sign up for our free trial, and you'll be able to use all our features for seven days. You'll see how helpful they are and how inexpensive they are compared to other options, Especially for Human Genetics.

5. Can I use a manuscript in Human Genetics that I have written in MS Word?

Yes. You can choose the right template, copy-paste the contents from the word document, and click on auto-format. Once you're done, you'll have a publish-ready paper Human Genetics that you can download at the end.

6. How long does it usually take you to format my papers in Human Genetics?

It only takes a matter of seconds to edit your manuscript. Besides that, our intuitive editor saves you from writing and formatting it in Human Genetics.

7. Where can I find the template for the Human Genetics?

It is possible to find the Word template for any journal on Google. However, why use a template when you can write your entire manuscript on SciSpace , auto format it as per Human Genetics's guidelines and download the same in Word, PDF and LaTeX formats? Give us a try!.

8. Can I reformat my paper to fit the Human Genetics's guidelines?

Of course! You can do this using our intuitive editor. It's very easy. If you need help, our support team is always ready to assist you.

9. Human Genetics an online tool or is there a desktop version?

SciSpace's Human Genetics is currently available as an online tool. We're developing a desktop version, too. You can request (or upvote) any features that you think would be helpful for you and other researchers in the "feature request" section of your account once you've signed up with us.

10. I cannot find my template in your gallery. Can you create it for me like Human Genetics?

Sure. You can request any template and we'll have it setup within a few days. You can find the request box in Journal Gallery on the right side bar under the heading, "Couldn't find the format you were looking for like Human Genetics?”

11. What is the output that I would get after using Human Genetics?

After writing your paper autoformatting in Human Genetics, you can download it in multiple formats, viz., PDF, Docx, and LaTeX.

12. Is Human Genetics's impact factor high enough that I should try publishing my article there?

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 these factors include review board, rejection rates, frequency of inclusion in indexes, and Eigenfactor. You need to assess all these factors before you make your final call.

13. What is Sherpa RoMEO Archiving Policy for Human Genetics?

SHERPA/RoMEO Database

We extracted this data from Sherpa Romeo to help researchers understand the access level of this journal in accordance with the Sherpa Romeo Archiving Policy for Human Genetics. The table below indicates the level of access a journal has as per Sherpa Romeo's 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.

14. What are the most common citation types In Human Genetics?

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

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

15. How do I submit my article to the Human Genetics?

It is possible to find the Word template for any journal on Google. However, why use a template when you can write your entire manuscript on SciSpace , auto format it as per Human Genetics's guidelines and download the same in Word, PDF and LaTeX formats? Give us a try!.

16. Can I download Human Genetics in Endnote format?

Yes, SciSpace provides this functionality. After signing up, you would need to import your existing references from Word or Bib file to SciSpace. Then SciSpace would allow you to download your references in Human Genetics Endnote style according to Elsevier guidelines.

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I spent hours with MS word for reformatting. It was frustrating - plain and simple. With SciSpace, I can draft my manuscripts and once it is finished I can just submit. In case, I have to submit to another journal it is really just a button click instead of an afternoon of reformatting.

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