BIOL 10700: Human Genetics

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 resesearch assignment.  Below you will find a suggested list of resources both on the web, in print and on- line 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, Ithaca College Library   (607) 274-3889  OR .

Search Tips

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(s) 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 ( Ex: United States,  America, North America  OR England, United Kingdom) . 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 Gentics . Use them to develop your own list!

Genetic analysis
Genetic counseling AND pregnancy
Genetic disorders
Genetic mapping
Genetic mutation
Gene regulation
Genetic screening
Genetic testing
Human gene mapping
Human reproductive technology
Medical genetics
Medical screening
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 and resources ( books, scholarly journal & e-books)  located in the Ithaca College Library.



USE Truncation to direct the database 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   

Dictionaries and Encyclopedias

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.

 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

A handbook of bioethics terms [electronic resource]

Where to Find Articles

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.

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
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.

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.

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.

Finding Review Articles

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 teach you about :
  •  the main people in the field
  • recent and major advances and discoveries
  • significant gaps in research
  • current debates
  • ideas of where research might go next
Adapted from  " Whats a Review Article" . University of Texas Library. University of Texas. Austin    AND
adapted from EAS 2680: Climate  and Global Warming - Cornell University Library Guide


Review articles are found in scholarly journals through 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


Source:  Finding Reviews : NSU Libraries

General Genetics Resources

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.
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.

A collection of resources for students and teachers of genetics. Produced by Nature Education.
Research portal that allows searching across 38 scientific databases from the US government.

Human Genetic Disorders

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 Health" (2011) and "Reproductive Ethics" (2009).

Genetic Counseling Patient Resources

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.

Science Writing

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

Contact Us

Picture: Fyiane Nsilo-Swai
Natural Sciences Librarian
(607) 274-3889

Call Number Locations



CQ Researcher

CQ Researcher provides award winning in-depth coverage of the most important issues of the day. Our reports are written by experienced journalists, footnoted and professionally fact-checked. Full-length articles include an overview, historical background, chronology, pro/con feature, plus resources for additional research. Graphics, photos and short "sidebar" features round out the reports

Genes and Health
IS gene therapy for disease on the horizon?
Are effective therapies derived from gene science on the horizon?
IS selling genetic tests directly to consumers a good idea?
 So much more

Books in the General Collection

Finding a topic

Sometimes finding a topic can be easy .  You already  heard a story on the news, read an article in the newspapaer or science blog or scholalry article.   However, this first step to conducting research can also be the most difficult part of the research process, especially if you have not selected one or more possible topics. 

Below is a list of places to look for science topics that may  allow you to brainstorm OR inspire you to get started with a topic of your won.

 Browse them to find stoires about the latest research that you may find of interest .

New York Times Science Section 
Well written reviews  of recently published resaerch

New York Times Health Section
Recent resaerch on health fitness, medicine and nutrition , among other topics.

Science News
Scientific research written in lay language.

Scientific American
All aspects of science and technology.

New Scientist
Science for the scientist, written with a humor and flair!
Adapted from Purdue University Libraries; Biological Sciences


Evaluating Heatlh Websites

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)



Finding Primary Sources

Primary, Scondary & Tertiary Sources
from James Cook University

Top Journals

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.

Tips for Searching OMIM

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:

How to Read a Scientific Paper

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 
  • Why?
  • How?
  • Anatomy

How to Read a Scientific Paper from Purdue University  library.

DNA Learning Center

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