Literature DB >> 19723346

The promise and reality of personal genomics.

Bryndis Yngvadottir1, Daniel G Macarthur, Hanjun Jin, Chris Tyler-Smith.   

Abstract

The publication of the highest-quality and best-annotated personal genome yet tells us much about sequencing technology, something about genetic ancestry, but still little of medical relevance.

Entities:  

Mesh：

Year:  2009        PMID： 19723346      PMCID： PMC2768970          DOI： 10.1186/gb-2009-10-9-237

Source DB:  PubMed          Journal:  Genome Biol        ISSN： 1474-7596            Impact factor:   13.583


  12 in total

1.  The diversity present in 5140 human mitochondrial genomes.

Authors:  Luísa Pereira; Fernando Freitas; Verónica Fernandes; Joana B Pereira; Marta D Costa; Stephanie Costa; Valdemar Máximo; Vincent Macaulay; Ricardo Rocha; David C Samuels
Journal:  Am J Hum Genet       Date:  2009-05-07       Impact factor: 11.025

2.  The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group.

Authors:  Sung-Min Ahn; Tae-Hyung Kim; Sunghoon Lee; Deokhoon Kim; Ho Ghang; Dae-Soo Kim; Byoung-Chul Kim; Sang-Yoon Kim; Woo-Yeon Kim; Chulhong Kim; Daeui Park; Yong Seok Lee; Sangsoo Kim; Rohit Reja; Sungwoong Jho; Chang Geun Kim; Ji-Young Cha; Kyung-Hee Kim; Bonghee Lee; Jong Bhak; Seong-Jin Kim
Journal:  Genome Res       Date:  2009-05-26       Impact factor: 9.043

3.  Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.

Authors:  Kevin Judd McKernan; Heather E Peckham; Gina L Costa; Stephen F McLaughlin; Yutao Fu; Eric F Tsung; Christopher R Clouser; Cisyla Duncan; Jeffrey K Ichikawa; Clarence C Lee; Zheng Zhang; Swati S Ranade; Eileen T Dimalanta; Fiona C Hyland; Tanya D Sokolsky; Lei Zhang; Andrew Sheridan; Haoning Fu; Cynthia L Hendrickson; Bin Li; Lev Kotler; Jeremy R Stuart; Joel A Malek; Jonathan M Manning; Alena A Antipova; Damon S Perez; Michael P Moore; Kathleen C Hayashibara; Michael R Lyons; Robert E Beaudoin; Brittany E Coleman; Michael W Laptewicz; Adam E Sannicandro; Michael D Rhodes; Rajesh K Gottimukkala; Shan Yang; Vineet Bafna; Ali Bashir; Andrew MacBride; Can Alkan; Jeffrey M Kidd; Evan E Eichler; Martin G Reese; Francisco M De La Vega; Alan P Blanchard
Journal:  Genome Res       Date:  2009-06-22       Impact factor: 9.043

4.  The diploid genome sequence of an Asian individual.

Authors:  Jun Wang; Wei Wang; Ruiqiang Li; Yingrui Li; Geng Tian; Laurie Goodman; Wei Fan; Junqing Zhang; Jun Li; Juanbin Zhang; Yiran Guo; Binxiao Feng; Heng Li; Yao Lu; Xiaodong Fang; Huiqing Liang; Zhenglin Du; Dong Li; Yiqing Zhao; Yujie Hu; Zhenzhen Yang; Hancheng Zheng; Ines Hellmann; Michael Inouye; John Pool; Xin Yi; Jing Zhao; Jinjie Duan; Yan Zhou; Junjie Qin; Lijia Ma; Guoqing Li; Zhentao Yang; Guojie Zhang; Bin Yang; Chang Yu; Fang Liang; Wenjie Li; Shaochuan Li; Dawei Li; Peixiang Ni; Jue Ruan; Qibin Li; Hongmei Zhu; Dongyuan Liu; Zhike Lu; Ning Li; Guangwu Guo; Jianguo Zhang; Jia Ye; Lin Fang; Qin Hao; Quan Chen; Yu Liang; Yeyang Su; A San; Cuo Ping; Shuang Yang; Fang Chen; Li Li; Ke Zhou; Hongkun Zheng; Yuanyuan Ren; Ling Yang; Yang Gao; Guohua Yang; Zhuo Li; Xiaoli Feng; Karsten Kristiansen; Gane Ka-Shu Wong; Rasmus Nielsen; Richard Durbin; Lars Bolund; Xiuqing Zhang; Songgang Li; Huanming Yang; Jian Wang
Journal:  Nature       Date:  2008-11-06       Impact factor: 49.962

5.  Worldwide human relationships inferred from genome-wide patterns of variation.

Authors:  Jun Z Li; Devin M Absher; Hua Tang; Audrey M Southwick; Amanda M Casto; Sohini Ramachandran; Howard M Cann; Gregory S Barsh; Marcus Feldman; Luigi L Cavalli-Sforza; Richard M Myers
Journal:  Science       Date:  2008-02-22       Impact factor: 47.728

6.  The diploid genome sequence of an individual human.

Authors:  Samuel Levy; Granger Sutton; Pauline C Ng; Lars Feuk; Aaron L Halpern; Brian P Walenz; Nelson Axelrod; Jiaqi Huang; Ewen F Kirkness; Gennady Denisov; Yuan Lin; Jeffrey R MacDonald; Andy Wing Chun Pang; Mary Shago; Timothy B Stockwell; Alexia Tsiamouri; Vineet Bafna; Vikas Bansal; Saul A Kravitz; Dana A Busam; Karen Y Beeson; Tina C McIntosh; Karin A Remington; Josep F Abril; John Gill; Jon Borman; Yu-Hui Rogers; Marvin E Frazier; Stephen W Scherer; Robert L Strausberg; J Craig Venter
Journal:  PLoS Biol       Date:  2007-09-04       Impact factor: 8.029

7.  Geographical affinities of the HapMap samples.

Authors:  Miao He; Jane Gitschier; Tatiana Zerjal; Peter de Knijff; Chris Tyler-Smith; Yali Xue
Journal:  PLoS One       Date:  2009-03-04       Impact factor: 3.240

8.  DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Authors:  Timothy J Ley; Elaine R Mardis; Li Ding; Bob Fulton; Michael D McLellan; Ken Chen; David Dooling; Brian H Dunford-Shore; Sean McGrath; Matthew Hickenbotham; Lisa Cook; Rachel Abbott; David E Larson; Dan C Koboldt; Craig Pohl; Scott Smith; Amy Hawkins; Scott Abbott; Devin Locke; Ladeana W Hillier; Tracie Miner; Lucinda Fulton; Vincent Magrini; Todd Wylie; Jarret Glasscock; Joshua Conyers; Nathan Sander; Xiaoqi Shi; John R Osborne; Patrick Minx; David Gordon; Asif Chinwalla; Yu Zhao; Rhonda E Ries; Jacqueline E Payton; Peter Westervelt; Michael H Tomasson; Mark Watson; Jack Baty; Jennifer Ivanovich; Sharon Heath; William D Shannon; Rakesh Nagarajan; Matthew J Walter; Daniel C Link; Timothy A Graubert; John F DiPersio; Richard K Wilson
Journal:  Nature       Date:  2008-11-06       Impact factor: 49.962

9.  The peopling of Korea revealed by analyses of mitochondrial DNA and Y-chromosomal markers.

Authors:  Han-Jun Jin; Chris Tyler-Smith; Wook Kim
Journal:  PLoS One       Date:  2009-01-16       Impact factor: 3.240

10.  Accurate whole human genome sequencing using reversible terminator chemistry.

Authors:  David R Bentley; Shankar Balasubramanian; Harold P Swerdlow; Geoffrey P Smith; John Milton; Clive G Brown; Kevin P Hall; Dirk J Evers; Colin L Barnes; Helen R Bignell; Jonathan M Boutell; Jason Bryant; Richard J Carter; R Keira Cheetham; Anthony J Cox; Darren J Ellis; Michael R Flatbush; Niall A Gormley; Sean J Humphray; Leslie J Irving; Mirian S Karbelashvili; Scott M Kirk; Heng Li; Xiaohai Liu; Klaus S Maisinger; Lisa J Murray; Bojan Obradovic; Tobias Ost; Michael L Parkinson; Mark R Pratt; Isabelle M J Rasolonjatovo; Mark T Reed; Roberto Rigatti; Chiara Rodighiero; Mark T Ross; Andrea Sabot; Subramanian V Sankar; Aylwyn Scally; Gary P Schroth; Mark E Smith; Vincent P Smith; Anastassia Spiridou; Peta E Torrance; Svilen S Tzonev; Eric H Vermaas; Klaudia Walter; Xiaolin Wu; Lu Zhang; Mohammed D Alam; Carole Anastasi; Ify C Aniebo; David M D Bailey; Iain R Bancarz; Saibal Banerjee; Selena G Barbour; Primo A Baybayan; Vincent A Benoit; Kevin F Benson; Claire Bevis; Phillip J Black; Asha Boodhun; Joe S Brennan; John A Bridgham; Rob C Brown; Andrew A Brown; Dale H Buermann; Abass A Bundu; James C Burrows; Nigel P Carter; Nestor Castillo; Maria Chiara E Catenazzi; Simon Chang; R Neil Cooley; Natasha R Crake; Olubunmi O Dada; Konstantinos D Diakoumakos; Belen Dominguez-Fernandez; David J Earnshaw; Ugonna C Egbujor; David W Elmore; Sergey S Etchin; Mark R Ewan; Milan Fedurco; Louise J Fraser; Karin V Fuentes Fajardo; W Scott Furey; David George; Kimberley J Gietzen; Colin P Goddard; George S Golda; Philip A Granieri; David E Green; David L Gustafson; Nancy F Hansen; Kevin Harnish; Christian D Haudenschild; Narinder I Heyer; Matthew M Hims; Johnny T Ho; Adrian M Horgan; Katya Hoschler; Steve Hurwitz; Denis V Ivanov; Maria Q Johnson; Terena James; T A Huw Jones; Gyoung-Dong Kang; Tzvetana H Kerelska; Alan D Kersey; Irina Khrebtukova; Alex P Kindwall; Zoya Kingsbury; Paula I Kokko-Gonzales; Anil Kumar; Marc A Laurent; Cynthia T Lawley; Sarah E Lee; Xavier Lee; Arnold K Liao; Jennifer A Loch; Mitch Lok; Shujun Luo; Radhika M Mammen; John W Martin; Patrick G McCauley; Paul McNitt; Parul Mehta; Keith W Moon; Joe W Mullens; Taksina Newington; Zemin Ning; Bee Ling Ng; Sonia M Novo; Michael J O'Neill; Mark A Osborne; Andrew Osnowski; Omead Ostadan; Lambros L Paraschos; Lea Pickering; Andrew C Pike; Alger C Pike; D Chris Pinkard; Daniel P Pliskin; Joe Podhasky; Victor J Quijano; Come Raczy; Vicki H Rae; Stephen R Rawlings; Ana Chiva Rodriguez; Phyllida M Roe; John Rogers; Maria C Rogert Bacigalupo; Nikolai Romanov; Anthony Romieu; Rithy K Roth; Natalie J Rourke; Silke T Ruediger; Eli Rusman; Raquel M Sanches-Kuiper; Martin R Schenker; Josefina M Seoane; Richard J Shaw; Mitch K Shiver; Steven W Short; Ning L Sizto; Johannes P Sluis; Melanie A Smith; Jean Ernest Sohna Sohna; Eric J Spence; Kim Stevens; Neil Sutton; Lukasz Szajkowski; Carolyn L Tregidgo; Gerardo Turcatti; Stephanie Vandevondele; Yuli Verhovsky; Selene M Virk; Suzanne Wakelin; Gregory C Walcott; Jingwen Wang; Graham J Worsley; Juying Yan; Ling Yau; Mike Zuerlein; Jane Rogers; James C Mullikin; Matthew E Hurles; Nick J McCooke; John S West; Frank L Oaks; Peter L Lundberg; David Klenerman; Richard Durbin; Anthony J Smith
Journal:  Nature       Date:  2008-11-06       Impact factor: 49.962
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  20 in total

1.  Electronic health records-driven phenotyping: challenges, recent advances, and perspectives.

Authors:  Jyotishman Pathak; Abel N Kho; Joshua C Denny
Journal:  J Am Med Inform Assoc       Date:  2013-12       Impact factor: 4.497

2.  Estimating growth patterns and driver effects in tumor evolution from individual samples.

Authors:  Leonidas Salichos; William Meyerson; Jonathan Warrell; Mark Gerstein
Journal:  Nat Commun       Date:  2020-02-05       Impact factor: 14.919

3.  Only connect: personal genomics and the future of American medicine.

Authors:  Misha Angrist
Journal:  Mol Diagn Ther       Date:  2010-04-01       Impact factor: 4.074

4.  Sequencing by ligation variation with endonuclease V digestion and deoxyinosine-containing query oligonucleotides.

Authors:  Antoine Ho; Maurice Murphy; Susan Wilson; Susan R Atlas; Jeremy S Edwards
Journal:  BMC Genomics       Date:  2011-12-12       Impact factor: 3.969

5.  Synthesis, physicochemical properties, and hydrogen bonding of 4(5)-substituted 1-H-imidazole-2-carboxamide, a potential universal reader for DNA sequencing by recognition tunneling.

Authors:  Feng Liang; Shengqing Li; Stuart Lindsay; Peiming Zhang
Journal:  Chemistry       Date:  2012-03-29       Impact factor: 5.236

Review 6.  Loss-of-function variants in the genomes of healthy humans.

Authors:  Daniel G MacArthur; Chris Tyler-Smith
Journal:  Hum Mol Genet       Date:  2010-08-30       Impact factor: 6.150

7.  Integrative annotation of variants from 1092 humans: application to cancer genomics.

Authors:  Ekta Khurana; Yao Fu; Vincenza Colonna; Xinmeng Jasmine Mu; Hyun Min Kang; Tuuli Lappalainen; Andrea Sboner; Lucas Lochovsky; Jieming Chen; Arif Harmanci; Jishnu Das; Alexej Abyzov; Suganthi Balasubramanian; Kathryn Beal; Dimple Chakravarty; Daniel Challis; Yuan Chen; Declan Clarke; Laura Clarke; Fiona Cunningham; Uday S Evani; Paul Flicek; Robert Fragoza; Erik Garrison; Richard Gibbs; Zeynep H Gümüş; Javier Herrero; Naoki Kitabayashi; Yong Kong; Kasper Lage; Vaja Liluashvili; Steven M Lipkin; Daniel G MacArthur; Gabor Marth; Donna Muzny; Tune H Pers; Graham R S Ritchie; Jeffrey A Rosenfeld; Cristina Sisu; Xiaomu Wei; Michael Wilson; Yali Xue; Fuli Yu; Emmanouil T Dermitzakis; Haiyuan Yu; Mark A Rubin; Chris Tyler-Smith; Mark Gerstein
Journal:  Science       Date:  2013-10-04       Impact factor: 47.728

8.  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

9.  Inference and validation of predictive gene networks from biomedical literature and gene expression data.

Authors:  Catharina Olsen; Kathleen Fleming; Niall Prendergast; Renee Rubio; Frank Emmert-Streib; Gianluca Bontempi; Benjamin Haibe-Kains; John Quackenbush
Journal:  Genomics       Date:  2014-03-29       Impact factor: 5.736

10.  SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes.

Authors:  Judith Mary Hariprakash; Shamsudheen Karuthedath Vellarikkal; Ankit Verma; Anop Singh Ranawat; Rijith Jayarajan; Rowmika Ravi; Anoop Kumar; Vishal Dixit; Ambily Sivadas; Atul Kumar Kashyap; Vigneshwar Senthivel; Paras Sehgal; Vijayalakshmi Mahadevan; Vinod Scaria; Sridhar Sivasubbu
Journal:  Database (Oxford)       Date:  2018-01-01       Impact factor: 3.451
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