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Human Mutation
Copyright © 2012 Wiley Periodicals Inc.
Edited By: Richard G.H. Cotton and Garry R. Cutting
Impact Factor: 5.956
ISI Journal Citation Reports © Ranking: 2010: 18/156 (Genetics & Heredity)
Online ISSN: 1098-1004
Recently Published Issues
Current Issue:February 2012
Volume 33, Issue 2
Volume 33, Issue 1
Volume 32, Issue 12
Volume 32, Issue 11
Volume 32, Issue 10
"IN THIS ISSUE" Featured Articles
Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.
February 2012
Planar cell polarity gene mutations in severe neural tube defects
January 2012
Molecular bypass switches for the targeted correction of ATM mutations
A database of genetic variants in microRNA genes and their putative functional roles in gene regulation
December 2011
BAG3 in heart disease: Novel clues for cardiomyocyte survival from the Z-disk?
Location, Location, Cis-mutation
Top Downloads
Novel genomic techniques open new avenues in the analysis of monogenic disorders
dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
Performance of mutation pathogenicity prediction methods on missense variants
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
Bioinformatics for Human Genetics: Promises and Challenges
New Video Abstracts
New video abstract created by author Haig Kazazian on his recently published Human Mutation paper entitled "Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon." Read the paper here.
Golden Helix Symposium
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April 18-21, 2012
Turin, Italy
HVP Special Issue
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Special Issue: Bioinformatics for Human Genetics: Promises and Challenges, A Human Variome Project Special Issue (May 2011)
Guest edited by Annika Lindblom and Peter N. Robinson
In this HVP Special Issue, expert bioinformaticians from among the attendees of the Paris 2010 Human Variome Project Symposium have provided a selection of some of the “hot” computational topics over the next decade. These experts identify the promise—what human geneticists who are not themselves bioinformaticians stand to gain—as well as the challenges and unmet needs that are likely to represent fruitful areas of research.
See also this article summarizing the HVP Paris 2010 meeting.
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