Detecting Mutations and Variants

Listings: 1-20   21-40   41-60   61-66
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Whole Genome Sequencing: A Considered Approach to Clinical Implementation
David Dimmock
Published online: April 2013
Management of Incidental Findings in Clinical Genomic Sequencing
Joel B. Krier, Robert C. Green, Robert C. Green
Published online: April 2013
Discovery of Biologically Active Oncologic and Immunologic Small Molecule Therapies using Zebrafish: Overview and Example of Modulation of T Cell Activation
Nikolaus S. Trede, Nikolaus S. Trede, William Heaton, Suzanne Ridges, Hossein Sofla, Matthew Cusick, David Bearss, David Jones, Robert S. Fujinami
Published online: March 2013
Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2
Ivan Adzhubei, Daniel M. Jordan, Daniel M. Jordan, Shamil R. Sunyaev
Published online: January 2013
Detecting the Signatures of Adaptive Evolution in Protein‐Coding Genes
Joseph P. Bielawski
Published online: January 2013
A Survey of Copy‐Number Variation Detection Tools Based on High‐Throughput Sequencing Data
Ruibin Xi, Ruibin Xi, Semin Lee, Peter J. Park, Peter J. Park, Peter J. Park
Published online: October 2012
The Human Gene Mutation Database (HGMD) and Its Exploitation in the Fields of Personalized Genomics and Molecular Evolution
Peter D. Stenson, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Katy Shaw, David N. Cooper
Published online: September 2012
Some Phenotype Association Tools in Galaxy: Looking for Disease SNPs in a Full Genome
Belinda M. Giardine, Cathy Riemer, Richard Burhans, Aakrosh Ratan, Webb Miller
Published online: September 2012
Nucleic Acid Blotting: Southern and Northern
Laura L. Mays Hoopes
Published online: September 2012
Oligonucleotide Microarrays for Clinical Diagnosis of Copy Number Variation and Zygosity Status
David T. Miller, David T. Miller, David T. Miller, Yiping Shen, Yiping Shen, Bai‐Lin Wu, Bai‐Lin Wu
Published online: July 2012
Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy
Taosheng Huang
Published online: October 2011
High‐Throughput Sequencing of PCR Products Tagged with Universal Primers Using 454 Life Sciences Systems
Derek Daigle, Birgitte B. Simen, Pascale Pochart
Published online: October 2011
Diagnosis of Copper Transport Disorders
Lisbeth B. Møller, Julia D. Hicks, Courtney S. Holmes, David S. Goldstein, Cornelia Brendl, Peter Huppke, Stephen G. Kaler
Published online: July 2011
In Vitro Anti‐Hepatitis C Virus (HCV) Resistance Selection and Characterization
Hongmei Mo
Published online: June 2011
Targeted Sequencing Using Affymetrix CustomSeq Arrays
Polakit Teekakirikul, Polakit Teekakirikul, Stephanie Cox, Birgit Funke, Birgit Funke, Birgit Funke, Birgit Funke, Heidi L. Rehm, Heidi L. Rehm, Heidi L. Rehm, Heidi L. Rehm
Published online: April 2011
Production of a Heterozygous Mutant Cell Line by Homologous Recombination (Single Knockout)
Richard Mortensen
Published online: April 2011
Establishment, Maintenance, and In Vitro and In Vivo Applications of Primary Human Glioblastoma Multiforme (GBM) Xenograft Models for Translational Biology Studies and Drug Discovery
Brett L. Carlson, Jenny L. Pokorny, Mark A. Schroeder, Jann N. Sarkaria
Published online: March 2011
Disease and Phenotype Data at Ensembl
Giulietta M. Spudich, Xosé M. Fernández‐Suárez
Published online: February 2011
Analysis of Mitochondrial DNA Point Mutation Heteroplasmy by ARMS Quantitative PCR
Jing Wang, Victor Venegas, Fangyuan Li, Lee‐Jun Wong
Published online: January 2011
Real‐Time Quantitative PCR Analysis of Mitochondrial DNA Content
Victor Venegas, Jing Wang, David Dimmock, Lee‐Jun Wong
Published online: January 2011
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