Literature DB >> 26791113

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.

William S Oetting1, Steven E Brenner2, Anthony J Brookes3, Marc S Greenblatt4, Reece K Hart5, Rachel Karchin6, Shamil R Sunyaev7, Peter E Taschner8,9.   

Abstract

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Year:  2016        PMID： 26791113      PMCID： PMC4783187          DOI： 10.1002/humu.22958

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Authors:  Mari Mori; Gloria Haskell; Zoheb Kazi; Xiaolin Zhu; Stephanie M DeArmey; Jennifer L Goldstein; Deeksha Bali; Catherine Rehder; Elizabeth T Cirulli; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2017-10-17       Impact factor: 4.797

2.  Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Authors:  Lora J H Bean; Madhuri R Hegde
Journal:  Hum Mutat       Date:  2016-03-18       Impact factor: 4.878

3.  The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Authors:  Panagiotis I Sergouniotis; Stephanie J Barton; Sarah Waller; Rahat Perveen; Jamie M Ellingford; Christopher Campbell; Georgina Hall; Rachel L Gillespie; Sanjeev S Bhaskar; Simon C Ramsden; Graeme C Black; Simon C Lovell
Journal:  Orphanet J Rare Dis       Date:  2016-09-14       Impact factor: 4.123
  3 in total

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