Literature DB >> 25056427

SNP-SIG 2013: from coding to non-coding--new approaches for genomic variant interpretation.

Yana Bromberg, Emidio Capriotti.   

Abstract

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Year:  2014        PMID： 25056427      PMCID： PMC4083406          DOI： 10.1186/1471-2164-15-S4-S1

Source DB:  PubMed          Journal:  BMC Genomics        ISSN： 1471-2164            Impact factor:   3.969


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  13 in total

1.  dbSNP: the NCBI database of genetic variation.

Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

Review 2.  Bioinformatics for personal genome interpretation.

Authors:  Emidio Capriotti; Nathan L Nehrt; Maricel G Kann; Yana Bromberg
Journal:  Brief Bioinform       Date:  2012-01-13       Impact factor: 11.622

3.  SNP-SIG Meeting 2011: identification and annotation of SNPs in the context of structure, function, and disease.

Authors:  Yana Bromberg; Emidio Capriotti
Journal:  BMC Genomics       Date:  2012-06-18       Impact factor: 3.969

4.  Towards sequence-based prediction of mutation-induced stability changes in unseen non-homologous proteins.

Authors:  Lukas Folkman; Bela Stantic; Abdul Sattar
Journal:  BMC Genomics       Date:  2014-01-24       Impact factor: 3.969

5.  Thoughts from SNP-SIG 2012: future challenges in the annotation of genetic variations.

Authors:  Yana Bromberg; Emidio Capriotti
Journal:  BMC Genomics       Date:  2013-05-28       Impact factor: 3.969

6.  High burden of private mutations due to explosive human population growth and purifying selection.

Authors:  Feng Gao; Alon Keinan
Journal:  BMC Genomics       Date:  2014-05-20       Impact factor: 3.969

7.  GWAS and drug targets.

Authors:  Chen Cao; John Moult
Journal:  BMC Genomics       Date:  2014-05-20       Impact factor: 3.969

8.  GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.

Authors:  Björn Stade; Dominik Seelow; Ingo Thomsen; Michael Krawczak; Andre Franke
Journal:  BMC Genomics       Date:  2014-05-20       Impact factor: 3.969

9.  Visualization of nucleotide substitutions in the (micro)transcriptome.

Authors:  Ammar Naqvi; Tiange Cui; Andrey Grigoriev
Journal:  BMC Genomics       Date:  2014-05-20       Impact factor: 3.969

10.  In silico comparative characterization of pharmacogenomic missense variants.

Authors:  Biao Li; Chet Seligman; Janita Thusberg; Jackson L Miller; Jim Auer; Michelle Whirl-Carrillo; Emidio Capriotti; Teri E Klein; Sean D Mooney
Journal:  BMC Genomics       Date:  2014-05-20       Impact factor: 3.969
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  3 in total

1.  VarI-SIG 2014--From SNPs to variants: interpreting different types of genetic variants.

Authors:  Yana Bromberg; Emidio Capriotti
Journal:  BMC Genomics       Date:  2015-06-18       Impact factor: 3.969

2.  Conditional entropy in variation-adjusted windows detects selection signatures associated with expression quantitative trait loci (eQTLs).

Authors:  Samuel K Handelman; Michal Seweryn; Ryan M Smith; Katherine Hartmann; Danxin Wang; Maciej Pietrzak; Andrew D Johnson; Andrzej Kloczkowski; Wolfgang Sadee
Journal:  BMC Genomics       Date:  2015-06-18       Impact factor: 3.969

3.  VarI-SIG 2015: methods for personalized medicine - the role of variant interpretation in research and diagnostics.

Authors:  Yana Bromberg; Emidio Capriotti; Hannah Carter
Journal:  BMC Genomics       Date:  2016-06-23       Impact factor: 3.969
  3 in total

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