Detecting Mutations and Variants

Listings: 1-20   21-40   41-60   61-80   more...
Alphabetical     Date
mtDNA Variation and Analysis Using Mitomap and Mitomaster
Marie T. Lott, Jeremy N. Leipzig, Olga Derbeneva, H. Michael Xie, Dimitra Chalkia, Mahdi Sarmady, Vincent Procaccio, Douglas C. Wallace
Published online: December 2013
Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection
Daniel C. Koboldt, David E. Larson, Richard K. Wilson
Published online: December 2013
Analyzing Copy Number Variation Using SNP Array Data: Protocols for Calling CNV and Association Tests
Chiao‐Feng Lin, Adam C. Naj, Li‐San Wang
Published online: October 2013
Genome‐Scale Sequencing to Identify Genes Involved in Mendelian Disorders
Thomas C. Markello, David R. Adams
Published online: October 2013
Identification of Mutations in Zebrafish Using Next‐Generation Sequencing
Katrin Henke, Margot E. Bowen, Matthew P. Harris
Published online: October 2013
Single Nucleotide Polymorphism Genotyping Using BeadChip Microarrays
Gilliam Lambert, Darwin Tsinajinnie, David Duggan
Published online: July 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, 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, 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, Semin Lee, 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, Yiping Shen, Bai‐Lin Wu
Published online: July 2012
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 Brendel, Peter Huppke, Stephen G. Kaler
Published online: July 2011
Targeted Sequencing Using Affymetrix CustomSeq Arrays
Polakit Teekakirikul, Stephanie Cox, Birgit Funke, Heidi L. Rehm
Published online: April 2011
Listings: 1-20   21-40   41-60   61-80   more...