BIOL 10700: Human Genetics
Below is a brief description of your assignment. For a more detailed description please consult your Final Project Assignment directions.
For your assignment you have been asked to educate the public about a topic on human genetics. Topics may include but are not limited to an issue in human genetics ( a disease, a phenmomenon, a type of test, a treatment...) find something of interest and tell the public the facts.
You will be required use a minimum of 5 reputable sources including some scholarly journal articles ( which can be review articles or primary literature).
This course guide provides you with a few select resources that you will need to get you started on your assignment. Below you will find a suggested list of resources both on the web, in print and online in the Ithaca College Library that are useful for conducting research on various topics in human genetics .
If you need additional information or research assistance, please feel free to contact the reference desk (607) 274-3890 or schedule an appointment with Fyiane Nsilo Swai, Natural Sciences Librarian (607) 274-3889 OR fnsiloswai@ithaca.edu .
For your assignment you have been asked to educate the public about a topic on human genetics. Topics may include but are not limited to an issue in human genetics ( a disease, a phenmomenon, a type of test, a treatment...) find something of interest and tell the public the facts.
You will be required use a minimum of 5 reputable sources including some scholarly journal articles ( which can be review articles or primary literature).
This course guide provides you with a few select resources that you will need to get you started on your assignment. Below you will find a suggested list of resources both on the web, in print and online in the Ithaca College Library that are useful for conducting research on various topics in human genetics .
If you need additional information or research assistance, please feel free to contact the reference desk (607) 274-3890 or schedule an appointment with Fyiane Nsilo Swai, Natural Sciences Librarian (607) 274-3889 OR fnsiloswai@ithaca.edu .
- Human Genetics
- Introduction
- Search Tips
- Dictionaries and Encyclopedias
- Finding Review Articles
- Where to Find Articles
- General Genetics Resources
- Human Genetic Disorders
- Genetic Counseling Patient Resources
- Science Writing
- Contact Us
- Call Number Locations
- Related Guides
- Evaluating Heatlh Websites
- Tips for Searching OMIM
- How to Read a Scientific Paper
- Suggested Search Terms
- Using the Ebrary Database
- DNA Learning Center
- Finding Primary Sources
- Writing & Citing
Keyword Search -v- Subject Search
Keyword Search
A Keyword search is the easiest way to search. A Keyword search will take the keywords you have entered and search the entire record for your keyword (Searching -Title, Author, Table of Contents, Subject Heading etc... field) .
A Key word search allows you to use your own words as search terms.
It is advisable to use a keyword search when:
1. You do not know all the words in a title or subject heading
2. There is no subject heading that matches your topic
3. Topic consists of more than one concept and you need to combine terms to search for all of them at once
Use AND to narrow your search
Ex: Cystic Fibrosis AND genetic screening
Huntington's disease AND genetic testing
Try different combinations of these keywords as you search for information. Keep in mind you will need to narrow your search specifing geographic region and each region maybe refered to differently (United States, America, North America) . Check the Subject Headings/descriptors for individual articles in your searches and repeat your search using these terms. Please note subject headings are not consistent across databases.
Listed below are some (not all !) of the keywords related to various topics related to human egentics . Use them to develop your own list!
Chromosome
DNA
Genetics
Genomcis
Genetic analysis
Genetic counseling AND pregnancy
Genetic disorders
Genetic mapping
Genetic mutation
Gene regulation
Genetic screening
Genetic testing
Heredity
Human gene mapping
Human reproductive technology
Medical genetics
Medical screening
Phenotype
RNA
Stem cells
Keyword Search
A Keyword search is the easiest way to search. A Keyword search will take the keywords you have entered and search the entire record for your keyword (Searching -Title, Author, Table of Contents, Subject Heading etc... field) .
A Key word search allows you to use your own words as search terms.
It is advisable to use a keyword search when:
1. You do not know all the words in a title or subject heading
2. There is no subject heading that matches your topic
3. Topic consists of more than one concept and you need to combine terms to search for all of them at once
Use AND to narrow your search
Ex: Cystic Fibrosis AND genetic screening
Huntington's disease AND genetic testing
Try different combinations of these keywords as you search for information. Keep in mind you will need to narrow your search specifing geographic region and each region maybe refered to differently (United States, America, North America) . Check the Subject Headings/descriptors for individual articles in your searches and repeat your search using these terms. Please note subject headings are not consistent across databases.
Listed below are some (not all !) of the keywords related to various topics related to human egentics . Use them to develop your own list!
Chromosome
DNA
Genetics
Genomcis
Genetic analysis
Genetic counseling AND pregnancy
Genetic disorders
Genetic mapping
Genetic mutation
Gene regulation
Genetic screening
Genetic testing
Heredity
Human gene mapping
Human reproductive technology
Medical genetics
Medical screening
Phenotype
RNA
Stem cells
Subject Search
Subject search will retrieve all items in the databases indexed under the topic. The results are going to be more relevant to your topic, however, unless you have the "correct" subject terms you may not find the information you are looking for. Trying to figure out what subject terms to use can be challenging.
Click on the Subject Headings in the column on the right hand -side of this course guide, for a list of of subject headings used for various human genetic topics located in the Ithaca College Library catalog.
ADDITIONAL SEARCH TIPS
TRUNCATION
USE Truncation to direct the databasse to search for variations in spelling of a word. Use an asterik * to retrieve variant roots of a word.
Ex: genetic* - will retrieve - --- genetic or genetics
USE ? to replace a single character anywhere within a word.
Ex: wom?n will retrieve - Woman, Women
m?n will retrieve - man, men
Subject search will retrieve all items in the databases indexed under the topic. The results are going to be more relevant to your topic, however, unless you have the "correct" subject terms you may not find the information you are looking for. Trying to figure out what subject terms to use can be challenging.
Click on the Subject Headings in the column on the right hand -side of this course guide, for a list of of subject headings used for various human genetic topics located in the Ithaca College Library catalog.
ADDITIONAL SEARCH TIPS
TRUNCATION
USE Truncation to direct the databasse to search for variations in spelling of a word. Use an asterik * to retrieve variant roots of a word.
Ex: genetic* - will retrieve - --- genetic or genetics
USE ? to replace a single character anywhere within a word.
Ex: wom?n will retrieve - Woman, Women
m?n will retrieve - man, men
Many Reference resources (Encyclopedias, Dictionaries, Handbooks etc...) are useful for acquiring background information, major theories, quick facts, keywords and help you understand your reading. They may also lead to more specific in-depth sources as the articles always contain references. Below are a few select print titles available in our reference collection and some are also in our general stacks. Search the Ithaca College Library Catalog for more titles.
PRINT
The Gale Encyclopedia of Genetic Disorders
Reference Stacks. RB155.5 .G35 2010 3rd. ed.
Arranged alphabeitcally provides, description, genetic profile, signs and symptoms, diagnosis, treatmet and management, alternative treatment , prognosis and a section on resources- listing suggested books, organizations, websites.
The Gale Encyclopedia of Alternative Medicine
Ref. R 733 G34 2001 ( 4vols.)
Arranged alphabetically, provides definition, description,causes & symptoms,diagnosis,treatment,expected results, prevention, books, articles, websites and key terms .
McGraw-Hill Encyclopedia of Science & Technology
Reference Q 121 M3 2001 20 vol.s
Vol. 7 has several short introductory encyclopedia articles on - Genetic Code, Genetic Engineering, Genetic Mapping and so much more.
A short guide to the human genome
General Stacks QH431 .S34 2008
The human genome : a user's guide
General Stacks QH431 .H353 2011
ELECTRONIC
A handbook of bioethics terms [electronic resource]
Please note: Reference sources may not be charged out of the library. For your convenience you may photocopy the information you need.
The Gale Encyclopedia of Genetic Disorders
Reference Stacks. RB155.5 .G35 2010 3rd. ed.
Arranged alphabeitcally provides, description, genetic profile, signs and symptoms, diagnosis, treatmet and management, alternative treatment , prognosis and a section on resources- listing suggested books, organizations, websites.
The Gale Encyclopedia of Alternative Medicine
Ref. R 733 G34 2001 ( 4vols.)
Arranged alphabetically, provides definition, description,causes & symptoms,diagnosis,treatment,expected results, prevention, books, articles, websites and key terms .
McGraw-Hill Encyclopedia of Science & Technology
Reference Q 121 M3 2001 20 vol.s
Vol. 7 has several short introductory encyclopedia articles on - Genetic Code, Genetic Engineering, Genetic Mapping and so much more.
A short guide to the human genome
General Stacks QH431 .S34 2008
The human genome : a user's guide
General Stacks QH431 .H353 2011
ELECTRONIC
A handbook of bioethics terms [electronic resource]
Review articles summarize and analyze a number of original studies on a certain topic. No original research is presented, however they do attempt to review everything on a topic and provide a current review of where the research stands. Their references are a good source for finding an overview and citations to primary literature ( articles containing original research) on a topic .
Review articles may be written by one or more authors and attempt to :
adapted from EAS 2680: Climate and Global Warming - Cornell University Library Guide
HOW DO YOU FIND REVIEW ARTICLE IN DATABASES?
Review artilces are found in schoalrly journals though library databases.
In most library databases you should be able to a conduct a keyword search and enter the word review in one of the search boxes.
Some library databases will allow you to limit your search to review articles from the search interface. See examples below.
Science Direct
Source: Finding Reviews: NSU Libraries
EBschosot
Source: Finding Reviews : NSU Libraries
Review articles may be written by one or more authors and attempt to :
- teach you about the main people in the field
- recent and major advancces and discoveries
- significant gaps in research
- current debates
- ideas of where research might go next
adapted from EAS 2680: Climate and Global Warming - Cornell University Library Guide
HOW DO YOU FIND REVIEW ARTICLE IN DATABASES?
Review artilces are found in schoalrly journals though library databases.
In most library databases you should be able to a conduct a keyword search and enter the word review in one of the search boxes.
Some library databases will allow you to limit your search to review articles from the search interface. See examples below.
Science Direct
Source: Finding Reviews: NSU Libraries
EBschosot
Source: Finding Reviews : NSU Libraries
The Ithaca College Library subscribes to many electronic databases, several of which include information relevant to Human Genetics. Because there is a growing consensus that Human Genetics is interdisciplinary you may need to consult more than one subject specific database.
Here are some of the top databases in this subject area:
General Interest Databases (cover a variety of subjects/topics)
Academic Search Premier
Multi-disciplinary database which includes a large collection of peer-reviewed journals in many areas of academic study including: archaeology, area studies, astronomy, biology, chemistry, ethnic & multicultural studies, law, mathematics, music, physics, psychology, religion & theology, women's studies, and other fields. Coverage varies, but begins in the 1990s for most journals.
Health Reference Center Academic
Click on Advance search screen. You will see three search boxes where you enter two or three key terms. For example enter Cystic Fibrosis (in one search box ) AND genetic testing ( in the second bo). Review your search results.
Google Scholar
A search engine that searches the Web for peer-reviewed papers, theses, books, preprints, abstracts and technical reports from broad areas of research. Supports cited reference searching. Includes recent or unpublished work that hasn't yet been indexed in other databases. Each Google search citation will include a link to the full-text resource provided by the IC Library, when available.
JSTOR
Complete backfiles of core scholarly journals, searchable by journal or discipline. Files do not include the latest 3-5 years. The content is delivered as page images.
Advance search of this database allows you to limit to the Biological Sciences Collection.
Make sure to limit your results by date ( your research should be no more than 4-5 years old , unless your professor specifies otherwise), language .
Biological Abstracts, 1969 to Present
Provides abstracts and bibliographic references to journal items focusing on vital biological and medical research findings, pharmacological studies, and discoveries of new organisms. Includes some linked full text.
PubMed
Citations to biomedical articles from MEDLINE and additional life science journals back to the 1950s; incl. links to sites with full-text articles and other related resources. Help with searching PubMed is available here.
ScienceDirect
Full-text scientific, technological, medical journals; subjects covered include biology, biochemistry, business management and accounting, chemistry, computer science, economics, finance, environmental science, mathematics, medicine, neuroscience, nursing, physics, psychology, education, and communication. Includes access to selected full-text reference books. Indexing/Abstracts to additional titles.
Here are some of the top databases in this subject area:
General Interest Databases (cover a variety of subjects/topics)
Academic Search Premier
Multi-disciplinary database which includes a large collection of peer-reviewed journals in many areas of academic study including: archaeology, area studies, astronomy, biology, chemistry, ethnic & multicultural studies, law, mathematics, music, physics, psychology, religion & theology, women's studies, and other fields. Coverage varies, but begins in the 1990s for most journals.
Health Reference Center Academic
Click on Advance search screen. You will see three search boxes where you enter two or three key terms. For example enter Cystic Fibrosis (in one search box ) AND genetic testing ( in the second bo). Review your search results.
Google Scholar
A search engine that searches the Web for peer-reviewed papers, theses, books, preprints, abstracts and technical reports from broad areas of research. Supports cited reference searching. Includes recent or unpublished work that hasn't yet been indexed in other databases. Each Google search citation will include a link to the full-text resource provided by the IC Library, when available.
JSTOR
Complete backfiles of core scholarly journals, searchable by journal or discipline. Files do not include the latest 3-5 years. The content is delivered as page images.
Advance search of this database allows you to limit to the Biological Sciences Collection.
Make sure to limit your results by date ( your research should be no more than 4-5 years old , unless your professor specifies otherwise), language .
Biological Abstracts, 1969 to Present
Provides abstracts and bibliographic references to journal items focusing on vital biological and medical research findings, pharmacological studies, and discoveries of new organisms. Includes some linked full text.
PubMed
Citations to biomedical articles from MEDLINE and additional life science journals back to the 1950s; incl. links to sites with full-text articles and other related resources. Help with searching PubMed is available here.
ScienceDirect
Full-text scientific, technological, medical journals; subjects covered include biology, biochemistry, business management and accounting, chemistry, computer science, economics, finance, environmental science, mathematics, medicine, neuroscience, nursing, physics, psychology, education, and communication. Includes access to selected full-text reference books. Indexing/Abstracts to additional titles.
The following web pages are good sources of information on various human genetic topic, professional organizations and research institutions. The selection criteria for these web pages include quality, content, reliability and currency.
DNA Learning Center (Cold Spring Harbor Laboratory)
Educational site about human genetics. Includes many topical learning modules, tools for genetic analysis, and 3D animations of genetic processes.
Genome.gov
Official web site of the National Human Genome Research Institute of the National Institute of Health (NIH). Includes discussions of current issues in genetics as well as descriptions of current research at NHGRI. The "Education" section offers some good introductory materials.
Genetic Home Reference
Geneti inormaion and web reources from the National Library of medicine. Consumer-friendly information about the effects of genetic variations on human health.
CDC Genomicics
Information on genetics an disease prevenion from the Center for Disease Control
Gene Tests : Reviews from NBI
GeneReviews are eper - authored, peer- reviewed, current disease descriptions that apply to genetic testing to the diagnosis, management, an genetic counseling of patients an families with specific inherited conditions.
Scitable
A collection of resources for students and teachers of genetics. Produced by Nature Education.
Science.gov
Research portal that allows searching across 38 scientific databases from the US government.
DNA Learning Center (Cold Spring Harbor Laboratory)
Educational site about human genetics. Includes many topical learning modules, tools for genetic analysis, and 3D animations of genetic processes.
Genome.gov
Official web site of the National Human Genome Research Institute of the National Institute of Health (NIH). Includes discussions of current issues in genetics as well as descriptions of current research at NHGRI. The "Education" section offers some good introductory materials.
Genetic Home Reference
Geneti inormaion and web reources from the National Library of medicine. Consumer-friendly information about the effects of genetic variations on human health.
CDC Genomicics
Information on genetics an disease prevenion from the Center for Disease Control
Gene Tests : Reviews from NBI
GeneReviews are eper - authored, peer- reviewed, current disease descriptions that apply to genetic testing to the diagnosis, management, an genetic counseling of patients an families with specific inherited conditions.
Scitable
A collection of resources for students and teachers of genetics. Produced by Nature Education.
Science.gov
Research portal that allows searching across 38 scientific databases from the US government.
Online Mendelian Inheritance in Man (OMIM)
A catalog of human genes and genetic disorders. For help with this database, see this guide or this short video tutorial.
Genes and Disease
E-book from NCBI that provides current information on genetic disorders in humans, organized by organ system.
Gale Encyclopedia of Genetic Disorders.
Ref. RB155.5.G35 2001
Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies.
CQ Researcher
Comprehensive reporting and analysis on current issues in the news. Each report includes an introductory overview; background and chronology on the topic; an assessment of the current situation; tables and maps; pro/con statements from representatives of opposing positions; and bibliographies of key sources. Some of these reports are quite old. Some interesting new ones include "Genes and Heath" (2011) and "Reproductive Ethics" (2009).
A catalog of human genes and genetic disorders. For help with this database, see this guide or this short video tutorial.
Genes and Disease
E-book from NCBI that provides current information on genetic disorders in humans, organized by organ system.
Gale Encyclopedia of Genetic Disorders.
Ref. RB155.5.G35 2001
Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies.
CQ Researcher
Comprehensive reporting and analysis on current issues in the news. Each report includes an introductory overview; background and chronology on the topic; an assessment of the current situation; tables and maps; pro/con statements from representatives of opposing positions; and bibliographies of key sources. Some of these reports are quite old. Some interesting new ones include "Genes and Heath" (2011) and "Reproductive Ethics" (2009).
The following web pages are good sources of information on various human genetic topics. The selection criteria for these web pages include quality, content, reliability and currency
Genetic Home Reference
Provides Consumer - friendly information about the effects of genetic variantions on human health.
Medline Plus. Org Genetic Counseling
from the National Library of Medicine.
Genetic Home Reference
Provides Consumer - friendly information about the effects of genetic variantions on human health.
Medline Plus. Org Genetic Counseling
from the National Library of Medicine.
Writing for Science by Robert Goldbort (e-book)
Includes a chapter on "undergraduate reports in the sciences."
Art of Scientific Writing (2nd ed.) by H.F. Ebel, C. Bliefert, & W.E. Russey
QD9.15 .E23 2004
Covers reports, dissertations, journal articles, and books. Aimed specifically at chemists, but applicable to any scientific writing.
Scientists Must Write by Robert Barrass
T11 .B37 2002
"a guide to better writing for scientists, engineers and students"
Writing in the Science - UNC Chapel Hill Writing Center
Includes a chapter on "undergraduate reports in the sciences."
Art of Scientific Writing (2nd ed.) by H.F. Ebel, C. Bliefert, & W.E. Russey
QD9.15 .E23 2004
Covers reports, dissertations, journal articles, and books. Aimed specifically at chemists, but applicable to any scientific writing.
Scientists Must Write by Robert Barrass
T11 .B37 2002
"a guide to better writing for scientists, engineers and students"
Writing in the Science - UNC Chapel Hill Writing Center
ITHACA COLLEGE LIBRARY- CALL NUMBER LOCATION
A-HN 4TH FLOOR
HB-Z 5TH FLOOR
There is a lot of free information available for free on the internet. Not all of the information is accurate or up to date. The following link is a resource to help you evaluate health information on the Web.
A User's Guide to Finding and Evaluating Health Information on the Web (Medical Library Association)
Below is a small list of specialized schoarly journals which contain contain research on genetics:
Nature Genetics
American Journal of Human Genetics
Genome Research
PLoS Genetics
Genome Biology
Above are ddirect links to the various databases which index ( contain) the journal highlighted above.
Nature Genetics
American Journal of Human Genetics
Genome Research
PLoS Genetics
Genome Biology
Above are ddirect links to the various databases which index ( contain) the journal highlighted above.
Online Mendelian Inheritance in Man
(OMIM) database is a catalog of human and genetic disorders authored and edited byDr. Victor A. McKuusik and his colleagues at John Hopkins University and elsewhere and was develped for the web by National Center for Biotechnology Information ( NCBI). It is a free resource that is updates daily.
Omim is a comprehensive authoritative compendium of human gene and genetic phenotypes that contain information on all known mendelian disorder and over 12,000 genes.
Omim focuses on the relationship beween phenotype and genotype.
Below is a lots of tip sheets and tutorials:
(OMIM) database is a catalog of human and genetic disorders authored and edited byDr. Victor A. McKuusik and his colleagues at John Hopkins University and elsewhere and was develped for the web by National Center for Biotechnology Information ( NCBI). It is a free resource that is updates daily.
Omim is a comprehensive authoritative compendium of human gene and genetic phenotypes that contain information on all known mendelian disorder and over 12,000 genes.
Omim focuses on the relationship beween phenotype and genotype.
Below is a lots of tip sheets and tutorials:
Understanding and knowing how to read a Scientific research paper is extremly important while conducting your research.
Below is a link to a short tutorial that explains
How to Read a Scientific Paper from Purdue University library.
Below is a link to a short tutorial that explains
- Why?
- How?
- Anatomy
How to Read a Scientific Paper from Purdue University library.
Listed below are some not ( not all!) of the Subject headings to various topics on Genetics.
bioethics
biomedical engineering
cloning
DNA
gene therapy
genetic engineering
genetic screening
genetics
genomics
human gene mapping
human genetics
human genome
human genome project
human reproductive technology
medical ethics
medical genetics
medical screening
stem cells
bioethics
biomedical engineering
cloning
DNA
gene therapy
genetic engineering
genetic screening
genetics
genomics
human gene mapping
human genetics
human genome
human genome project
human reproductive technology
medical ethics
medical genetics
medical screening
stem cells
Search 70,000 ebooks in the ebrary database:
- Open a book by clicking on the title name or book jacket.
- Jump to relevant chapters and flip through pages.
- Highlight, take notes, and create a personal bookshelf to save and organize your research.
- Copy and paste text, print pages and chapters, or download pages and chapters.
- Use Preferences in the InfoTools menu to choose a citation style. Citation information will automatically be included when you copy, paste, print, or download.
- Manage and share your research by dragging books, highlights, and notes into bookshelf folders, which can be emailed to others in your research group.
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Primary, Scondary & Tertiary Sources
from James Cook University
from James Cook University
See our Writing & Citing page for information on citation styles and practices.
