Literature DB >> 24715850

Enhancing the incidental pipeline in genomic sequencing.

B D Solomon1.   

Abstract

Keywords:  Exome; Genome; Genomic sequencing; Incidental medical information; Incidental pipeline

Year:  2014        PMID： 24715850      PMCID： PMC3977220          DOI： 10.1159/000357929

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  19 in total

1.  Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.

Authors:  Irmgard Nippert; Hilary J Harris; Claire Julian-Reynier; Ulf Kristoffersson; Leo P Ten Kate; Elizabeth Anionwu; Caroline Benjamin; Kirsty Challen; Jörg Schmidtke; R Peter Nippert; Rodney Harris
Journal:  J Community Genet       Date:  2010-12-04

2.  Clinical genomic database.

Authors:  Benjamin D Solomon; Anh-Dao Nguyen; Kelly A Bear; Tyra G Wolfsberg
Journal:  Proc Natl Acad Sci U S A       Date:  2013-05-21       Impact factor: 11.205

3.  Offering individual genetic research results: context matters.

Authors:  Laura M Beskow; Wylie Burke
Journal:  Sci Transl Med       Date:  2010-06-30       Impact factor: 17.956

4.  Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Authors:  Michael O Dorschner; Laura M Amendola; Emily H Turner; Peggy D Robertson; Brian H Shirts; Carlos J Gallego; Robin L Bennett; Kelly L Jones; Mari J Tokita; James T Bennett; Jerry H Kim; Elisabeth A Rosenthal; Daniel S Kim; Holly K Tabor; Michael J Bamshad; Arno G Motulsky; C Ronald Scott; Colin C Pritchard; Tom Walsh; Wylie Burke; Wendy H Raskind; Peter Byers; Fuki M Hisama; Deborah A Nickerson; Gail P Jarvik
Journal:  Am J Hum Genet       Date:  2013-09-19       Impact factor: 11.025

5.  Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Authors:  Jennifer J Johnston; Wendy S Rubinstein; Flavia M Facio; David Ng; Larry N Singh; Jamie K Teer; James C Mullikin; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

6.  Human non-synonymous SNPs: server and survey.

Authors:  Vasily Ramensky; Peer Bork; Shamil Sunyaev
Journal:  Nucleic Acids Res       Date:  2002-09-01       Impact factor: 16.971

7.  Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

Authors:  Yali Xue; Yuan Chen; Qasim Ayub; Ni Huang; Edward V Ball; Matthew Mort; Andrew D Phillips; Katy Shaw; Peter D Stenson; David N Cooper; Chris Tyler-Smith
Journal:  Am J Hum Genet       Date:  2012-12-07       Impact factor: 11.025

8.  Incidental medical information in whole-exome sequencing.

Authors:  Benjamin D Solomon; Donald W Hadley; Daniel E Pineda-Alvarez; Aparna Kamat; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Pedro Cruz; Alice C Young; Benjamin E Berkman; Settara C Chandrasekharappa; James C Mullikin
Journal:  Pediatrics       Date:  2012-05-14       Impact factor: 7.124

9.  A public resource facilitating clinical use of genomes.

Authors:  Madeleine P Ball; Joseph V Thakuria; Alexander Wait Zaranek; Tom Clegg; Abraham M Rosenbaum; Xiaodi Wu; Misha Angrist; Jong Bhak; Jason Bobe; Matthew J Callow; Carlos Cano; Michael F Chou; Wendy K Chung; Shawn M Douglas; Preston W Estep; Athurva Gore; Peter Hulick; Alberto Labarga; Je-Hyuk Lee; Jeantine E Lunshof; Byung Chul Kim; Jong-Il Kim; Zhe Li; Michael F Murray; Geoffrey B Nilsen; Brock A Peters; Anugraha M Raman; Hugh Y Rienhoff; Kimberly Robasky; Matthew T Wheeler; Ward Vandewege; Daniel B Vorhaus; Joyce L Yang; Luhan Yang; John Aach; Euan A Ashley; Radoje Drmanac; Seong-Jin Kim; Jin Billy Li; Leonid Peshkin; Christine E Seidman; Jeong-Sun Seo; Kun Zhang; Heidi L Rehm; George M Church
Journal:  Proc Natl Acad Sci U S A       Date:  2012-07-13       Impact factor: 11.205

10.  Predicting the functional effect of amino acid substitutions and indels.

Authors:  Yongwook Choi; Gregory E Sims; Sean Murphy; Jason R Miller; Agnes P Chan
Journal:  PLoS One       Date:  2012-10-08       Impact factor: 3.240
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  1 in total

1.  Obstacles and opportunities for the future of genomic medicine.

Authors:  Benjamin D Solomon
Journal:  Mol Genet Genomic Med       Date:  2014-05-06       Impact factor: 2.183
  1 in total

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