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1.
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Targeted next-generation sequencing for routine clinical screening of mutations
Jamie
MJ
Weaver,
Paul
AW
Edwards
Genome Medicine 2011, 3:58 (12 September 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Weaver and Edwards highlight a new single-step targeted sequencing approach to detect mutations in the breast cancer gene BRCA1, towards the development of a novel clinical diagnostic protocol.
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2.
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Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort
Katherine
R
Smith,
Vijayaprakash
Suppiah,
Kate
O'Connor,
Thomas
Berg,
Martin
Weltman,
Maria
Abate,
Ulrich
Spengler,
Margaret
Bassendine,
Gail
Matthews,
William
L
Irving,
Elizabeth
Powell,
Stephen
Riordan,
Golo
Ahlenstiel,
Graeme
J
Stewart,
Melanie
Bahlo,
Jacob
George,
David
R
Booth,
Genome Medicine 2011, 3:57 (31 August 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Novel variants in the IL28B gene region, which predict lack of response to conventional treatment of hepatitis C virus, are identified through massively parallel sequencing using pooled DNA.
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3.
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Are diagnostic and public health bacteriology ready to become branches of genomic medicine?
Mark
J
Pallen,
Nicholas
J
Loman
Genome Medicine 2011, 3:53 (23 August 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
As next-generation sequencing technologies continue to evolve, Mark Pallen and Nicholas Loman muse on the impact of whole genome sequencing on diagnostic and public health microbiology.
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4.
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Predictive genetic testing for the identification of high-risk groups: a simulation study on the impact of predictive ability
Raluca
Mihaescu,
Ramal
Moonesinghe,
Muin
J
Khoury,
A
Janssens
Genome Medicine 2011, 3:51 (28 July 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Analysis of the predictive ability of risk models to identify high-risk groups for complex diseases highlights the importance of the frequency of the risk group and the frequency of the disease.
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5.
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Towards the integration of genomics, epidemiological and clinical data
Victor
V
Solovyev,
Tatiana
V
Tatarinova
Genome Medicine 2011, 3:48 (27 July 2011)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Victor Solovyev and Tatiana Tatarinova present the highlights and applications of new technologies of the Wellcome Trust Scientific Conference on 'Applied Bioinformatics and Public Health Microbiology 2011'.
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6.
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Exploring genomic studies in Africa
Scott
M
Williams,
Sarah
A
Tishkoff
Genome Medicine 2011, 3:45 (8 July 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Sarah Tishkoff and Scott Williams report on highlights from the African Society of Human Genetics meeting on 'Building Capacity for Genomic and Translational Research in Africa'.
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7.
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Genetic variants in the MRPS30 region and postmenopausal breast cancer risk
Ying
Huang,
Dennis
G
Ballinger,
James
Y
Dai,
Ulrike
Peters,
David
A
Hinds,
David
R
Cox,
Erica
Beilharz,
Rowan
T
Chlebowski,
Jacques
E
Rossouw,
Anne
McTiernan,
Thomas
Rohan,
Ross
L
Prentice
Genome Medicine 2011, 3:42 (24 June 2011)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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Editor’s summary
Inclusion of hormonal and dietary exposure information links the MRPS30 genomic region to postmenopausal breast cancer risk, showing the importance of genotype by environment interactions.
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8.
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The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease
Carmen
Antúnez,
Mercè
Boada,
Antonio
González-Pérez,
Javier
Gayán,
Reposo
Ramírez-Lorca,
Juan
Marín,
Isabel
Hernández,
Concha
Moreno-Rey,
Francisco
Morón,
Jesús
López-Arrieta,
Ana
Mauleón,
Maitée
Rosende-Roca,
Fuensanta
Noguera-Perea,
Agustina
Legaz-García,
Laura
Vivancos-Moreau,
Juan
Velasco,
José
Carrasco,
Montserrat
Alegret,
Martirio
Antequera-Torres,
Salvadora
Manzanares,
Alejandro
Romo,
Irene
Blanca,
Susana
Ruiz,
Anna
Espinosa,
Sandra
Castaño,
Blanca
García,
Begoña
Martínez-Herrada,
Georgina
Vinyes,
Asunción
Lafuente,
James
T
Becker
et al.
Genome Medicine 2011, 3:33 (31 May 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
A genome-wide association study in a Spanish population identifies a novel variant associated with Alzheimer’s disease, within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster.
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9.
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Testing for rare variant associations in complex diseases
Jennifer
Asimit,
Eleftheria
Zeggini
Genome Medicine 2011, 3:24 (27 April 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Asimit and Zeggini highlight a new methodology developed by Ionita Laza et al. for detecting rare variants associated with a risk or protective effect in complex disease.
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10.
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Towards an understanding of genetic predisposition to migraine
Verneri
Anttila,
Maija
Wessman,
Mikko
Kallela,
Aarno
Palotie
Genome Medicine 2011, 3:17 (21 March 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
A recent genome-wide association study of migraine has linked it to a gene that regulates glutamate transporter gene expression, bridging the gap between Mendelian and common forms of this disorder.
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11.
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Strengthening the reporting of genetic risk prediction studies: the GRIPS statement
A Cecile
JW
Janssens,
John
PA
Ioannidis,
Cornelia
M
van Duijn,
Julian
Little,
Muin
J
Khoury,
Genome Medicine 2011, 3:16 (15 March 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
With the recent increase in genetic risk prediction studies, a statement has been compiled to provide guidelines for the complete and accurate reporting of research methodology and findings.
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12.
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The quest for genetic risk factors for Crohn's disease in the post-GWAS era
Karin
Fransen,
Mitja
Mitrovic,
Cleo
C
van Diemen,
Rinse
K
Weersma
Genome Medicine 2011, 3:13 (25 February 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
Genome-wide association studies and meta-analyses have identified 71 risk loci so far, implicating roles for innate immunity, interleukin-23 receptor signaling and autophagy.
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13.
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Genome Medicine: past, present and future
Charles
Auffray,
Timothy
Caulfield,
Muin
J
Khoury,
James
R
Lupski,
Matthias
Schwab,
Timothy
Veenstra
Genome Medicine 2011, 3:6 (31 January 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
As Genome Medicine reaches its second anniversary, our Section Editors identify the most exciting recent breakthroughs and offer their opinions on what the future of genomic medicine might hold.
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14.
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The clinical utility of testicular cancer risk loci
Christian
P
Kratz,
Gennady
Bratslavsky,
Jianxin
Shi
Genome Medicine 2011, 3:1 (21 January 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
A predisposition to testicular germ cell tumors is highly heritable, but screening of the general population for associated genetic variants currently has no proven value.
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15.
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Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data
Joanne
H
Wang,
Derek
Pappas,
Philip
L
De Jager,
Daniel
Pelletier,
Paul
IW
de Bakker,
Ludwig
Kappos,
Chris
H
Polman,
Lori
B
Chibnik,
David
A
Hafler,
Paul
M
Matthews,
Stephen
L
Hauser,
Sergio
E
Baranzini,
Jorge
R
Oksenberg
Genome Medicine 2011, 3:3 (18 January 2011)
Abstract | Full text | PDF | PubMed
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Editor’s summary
A novel genetic profile for multiple sclerosis is enriched for genes involved in such pathways as immune response and nervous system development, providing insights into disease heterogeneity and genetic risk.
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