Literature DB >> 27019452

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Caroline Lacoste1, Jean-Pierre Desvignes, David Salgado, Christophe Pecheux, Laurent Villard, Marc Bartoli, Christophe Beroud, Nicolas Levy, Catherine Badens, Martin Krahn.   

Abstract

Mesh：

Year:  2016        PMID： 27019452     DOI： 10.1007/s12041-016-0619-0

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  14 in total

1.  A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Authors:  Kornelia Neveling; Ilse Feenstra; Christian Gilissen; Lies H Hoefsloot; Erik-Jan Kamsteeg; Arjen R Mensenkamp; Richard J T Rodenburg; Helger G Yntema; Liesbeth Spruijt; Sascha Vermeer; Tuula Rinne; Koen L van Gassen; Danielle Bodmer; Dorien Lugtenberg; Rick de Reuver; Wendy Buijsman; Ronny C Derks; Nienke Wieskamp; Bert van den Heuvel; Marjolijn J L Ligtenberg; Hannie Kremer; David A Koolen; Bart P C van de Warrenburg; Frans P M Cremers; Carlo L M Marcelis; Jan A M Smeitink; Saskia B Wortmann; Wendy A G van Zelst-Stams; Joris A Veltman; Han G Brunner; Hans Scheffer; Marcel R Nelen
Journal:  Hum Mutat       Date:  2013-10-18       Impact factor: 4.878

2.  An integrated semiconductor device enabling non-optical genome sequencing.

Authors:  Jonathan M Rothberg; Wolfgang Hinz; Todd M Rearick; Jonathan Schultz; William Mileski; Mel Davey; John H Leamon; Kim Johnson; Mark J Milgrew; Matthew Edwards; Jeremy Hoon; Jan F Simons; David Marran; Jason W Myers; John F Davidson; Annika Branting; John R Nobile; Bernard P Puc; David Light; Travis A Clark; Martin Huber; Jeffrey T Branciforte; Isaac B Stoner; Simon E Cawley; Michael Lyons; Yutao Fu; Nils Homer; Marina Sedova; Xin Miao; Brian Reed; Jeffrey Sabina; Erika Feierstein; Michelle Schorn; Mohammad Alanjary; Eileen Dimalanta; Devin Dressman; Rachel Kasinskas; Tanya Sokolsky; Jacqueline A Fidanza; Eugeni Namsaraev; Kevin J McKernan; Alan Williams; G Thomas Roth; James Bustillo
Journal:  Nature       Date:  2011-07-20       Impact factor: 49.962

3.  Diagnostic clinical genome and exome sequencing.

Authors:  Leslie G Biesecker; Robert C Green
Journal:  N Engl J Med       Date:  2014-09-18       Impact factor: 91.245

4.  Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.

Authors:  Marc Bartoli; Jean-Pierre Desvignes; Levy Nicolas; Krahn Martin
Journal:  Muscle Nerve       Date:  2014-10-30       Impact factor: 3.217

5.  BEDTools: a flexible suite of utilities for comparing genomic features.

Authors:  Aaron R Quinlan; Ira M Hall
Journal:  Bioinformatics       Date:  2010-01-28       Impact factor: 6.937

Review 6.  Disease-targeted sequencing: a cornerstone in the clinic.

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

7.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Authors:  Murim Choi; Ute I Scholl; Weizhen Ji; Tiewen Liu; Irina R Tikhonova; Paul Zumbo; Ahmet Nayir; Ayşin Bakkaloğlu; Seza Ozen; Sami Sanjad; Carol Nelson-Williams; Anita Farhi; Shrikant Mane; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-10-27       Impact factor: 11.205

8.  The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing.

Authors:  Joseph F Boland; Charles C Chung; David Roberson; Jason Mitchell; Xijun Zhang; Kate M Im; Ji He; Stephen J Chanock; Meredith Yeager; Michael Dean
Journal:  Hum Genet       Date:  2013-06-12       Impact factor: 4.132

9.  ACMG clinical laboratory standards for next-generation sequencing.

Authors:  Heidi L Rehm; Sherri J Bale; Pinar Bayrak-Toydemir; Jonathan S Berg; Kerry K Brown; Joshua L Deignan; Michael J Friez; Birgit H Funke; Madhuri R Hegde; Elaine Lyon
Journal:  Genet Med       Date:  2013-07-25       Impact factor: 8.822

10.  Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population.

Authors:  Ikuko N Motoike; Mitsuyo Matsumoto; Inaho Danjoh; Fumiki Katsuoka; Kaname Kojima; Naoki Nariai; Yukuto Sato; Yumi Yamaguchi-Kabata; Shin Ito; Hisaaki Kudo; Ichiko Nishijima; Satoshi Nishikawa; Xiaoqing Pan; Rumiko Saito; Sakae Saito; Tomo Saito; Matsuyuki Shirota; Kaoru Tsuda; Junji Yokozawa; Kazuhiko Igarashi; Naoko Minegishi; Osamu Tanabe; Nobuo Fuse; Masao Nagasaki; Kengo Kinoshita; Jun Yasuda; Masayuki Yamamoto
Journal:  BMC Genomics       Date:  2014-08-10       Impact factor: 3.969
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