Literature DB >> 23135443

One-stop shop for disease genes.

Monya Baker.   

Abstract

Mesh：

Year:  2012        PMID： 23135443     DOI： 10.1038/491171a

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  6 in total

1.  DANN: a deep learning approach for annotating the pathogenicity of genetic variants.

Authors:  Daniel Quang; Yifei Chen; Xiaohui Xie
Journal:  Bioinformatics       Date:  2014-10-22       Impact factor: 6.937

Review 2.  Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation.

Authors:  Haiming Tang; Paul D Thomas
Journal:  Genetics       Date:  2016-06       Impact factor: 4.562

Review 3.  Disease-targeted sequencing: a cornerstone in the clinic.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2013-03-12       Impact factor: 53.242

4.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

5.  Pathology informatics fellowship training: Focus on molecular pathology.

Authors:  Diana Mandelker; Roy E Lee; Mia Y Platt; Gregory Riedlinger; Andrew Quinn; Luigi K F Rao; Veronica E Klepeis; Michael Mahowald; William J Lane; Bruce A Beckwith; Jason M Baron; David S McClintock; Frank C Kuo; Matthew S Lebo; John R Gilbertson
Journal:  J Pathol Inform       Date:  2014-03-28

6.  Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Authors:  Emily Olfson; Catherine E Cottrell; Nicholas O Davidson; Christina A Gurnett; Jonathan W Heusel; Nathan O Stitziel; Li-Shiun Chen; Sarah Hartz; Rakesh Nagarajan; Nancy L Saccone; Laura J Bierut
Journal:  PLoS One       Date:  2015-09-02       Impact factor: 3.240
  6 in total

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