-
1
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium. et al. (2015) A global reference for human genetic variation. Nature, 526, 68–74.
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
-
2
-
-
85007138010
-
Genetic identification of familial hypercholesterol-emia within a single U.S. Health care system
-
New York, N.Y
-
Abul-Husn,N.S. et al. (2016) Genetic identification of familial hypercholesterol-emia within a single U.S. health care system. Science (New York, N.Y.), 354.
-
(2016)
Science
, pp. 354
-
-
Abul-Husn, N.S.1
-
3
-
-
84949503780
-
Genomics virtual laboratory: A practical bioinformatics workbench for the cloud
-
Afgan,E. et al. (2015) Genomics virtual laboratory: a practical bioinformatics workbench for the cloud. PloS One, 10, e0140829.
-
(2015)
PloS One
, vol.10
, pp. e0140829
-
-
Afgan, E.1
-
4
-
-
84901814887
-
A pan-cancer proteomic perspective on The Cancer Genome Atlas
-
Akbani,R. et al. (2014) A pan-cancer proteomic perspective on The Cancer Genome Atlas. Nat. Commun., 5, 3887.
-
(2014)
Nat. Commun.
, vol.5
, pp. 3887
-
-
Akbani, R.1
-
5
-
-
85009442777
-
A genetic association study of CSMD1 and CSMD2 with cognitive function
-
Athanasiu,L. et al. (2017) A genetic association study of CSMD1 and CSMD2 with cognitive function. Brain Behav. Immun., 61, 209–216.
-
(2017)
Brain Behav. Immun.
, vol.61
, pp. 209-216
-
-
Athanasiu, L.1
-
6
-
-
84896882531
-
Harvard Personal Genome Project: Lessons from participatory public research
-
Ball,M.P. et al. (2014) Harvard Personal Genome Project: lessons from participatory public research. Genome Med., 6, 10.
-
(2014)
Genome Med.
, vol.6
, pp. 10
-
-
Ball, M.P.1
-
7
-
-
84965014219
-
Bioinformatics and microarray data analysis on the cloud
-
Clifton, N.J
-
Calabrese,B. and Cannataro,M. (2016) Bioinformatics and microarray data analysis on the cloud. Methods Mol. Biol. (Clifton, N.J.), 1375, 25–39.
-
(2016)
Methods Mol. Biol.
, vol.1375
, pp. 25-39
-
-
Calabrese, B.1
Cannataro, M.2
-
8
-
-
85011846544
-
Standardizing terms for clinical pharmacogenetic test results: Consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)
-
Caudle,K.E. et al. (2017) Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet. Med., 19, 215–223.
-
(2017)
Genet. Med.
, vol.19
, pp. 215-223
-
-
Caudle, K.E.1
-
9
-
-
84995874900
-
Evidence and resources to implement pharmacogenetic knowledge for precision medicine
-
Caudle,K.E. et al. (2016) Evidence and resources to implement pharmacogenetic knowledge for precision medicine. Am. J. Health Syst. Pharm., 73, 1977–1985.
-
(2016)
Am. J. Health Syst. Pharm.
, vol.73
, pp. 1977-1985
-
-
Caudle, K.E.1
-
10
-
-
84876972277
-
The genetics of psoriasis and psoriatic arthritis
-
Chandran,V. (2013) The genetics of psoriasis and psoriatic arthritis. Clin. Rev. Allergy Immunol., 44, 149–156.
-
(2013)
Clin. Rev. Allergy Immunol.
, vol.44
, pp. 149-156
-
-
Chandran, V.1
-
11
-
-
84974559592
-
Secure cloud computing for genomic data
-
Datta,S. et al. (2016) Secure cloud computing for genomic data. Nat. Biotechnol., 34, 588–591.
-
(2016)
Nat. Biotechnol.
, vol.34
, pp. 588-591
-
-
Datta, S.1
-
12
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo,M.A. et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet., 43, 491–498.
-
(2011)
Nat. Genet.
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
-
13
-
-
84896769549
-
Clinical interpretation and implications of whole-genome sequencing
-
Dewey,F.E. et al. (2014) Clinical interpretation and implications of whole-genome sequencing. JAMA, 311, 1035–1045.
-
(2014)
JAMA
, vol.311
, pp. 1035-1045
-
-
Dewey, F.E.1
-
14
-
-
84999053484
-
Complement inhibitor CSMD1 acts as tumor suppressor in human breast cancer
-
Escudero-Esparza,A. et al. (2016) Complement inhibitor CSMD1 acts as tumor suppressor in human breast cancer. Oncotarget, 7, 76920–76933.
-
(2016)
Oncotarget
, vol.7
, pp. 76920-76933
-
-
Escudero-Esparza, A.1
-
15
-
-
84953289902
-
Genome-wide scan informed by age-related disease identifies loci for exceptional human longevity
-
Fortney,K. et al. (2015) Genome-wide scan informed by age-related disease identifies loci for exceptional human longevity. PLoS Genet., 11, e1005728.
-
(2015)
PLoS Genet.
, vol.11
, pp. e1005728
-
-
Fortney, K.1
-
16
-
-
84978128486
-
The genetic architecture of type 2 diabetes
-
Fuchsberger,C. et al. (2016) The genetic architecture of type 2 diabetes. Nature, 536, 41–47.
-
(2016)
Nature
, vol.536
, pp. 41-47
-
-
Fuchsberger, C.1
-
17
-
-
84905579746
-
Whole-genome sequence variation, population structure and demographic history of the Dutch population
-
Genome of the Netherlands Consortium. (2014) Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat. Genet., 46, 818–825.
-
(2014)
Nat. Genet.
, vol.46
, pp. 818-825
-
-
-
18
-
-
84929001104
-
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
-
New York, N.Y
-
GTEx Consortium. (2015) Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science (New York, N.Y.), 348, 648–660.
-
(2015)
Science
, vol.348
, pp. 648-660
-
-
-
19
-
-
84929132687
-
Large-scale whole-genome sequencing of the Icelandic population
-
Gudbjartsson,D.F. et al. (2015) Large-scale whole-genome sequencing of the Icelandic population. Nat. Genet., 47, 435–444.
-
(2015)
Nat. Genet.
, vol.47
, pp. 435-444
-
-
Gudbjartsson, D.F.1
-
20
-
-
85009756476
-
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms
-
Guo,M.H. et al. (2017) Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proc. Natl. Acad. Sci. U.S.A., 114, E327–E336.
-
(2017)
Proc. Natl. Acad. Sci. U.S.A.
, vol.114
, pp. E327-E336
-
-
Guo, M.H.1
-
21
-
-
84897705749
-
Cloud processing of 1000 genomes sequencing data using Amazon Web Service
-
Austin, TX, USA
-
Huang,Z. et al. (2013) Cloud processing of 1000 genomes sequencing data using Amazon Web Service. In 2013 IEEE Global Conference on Signal and Information Processing, Austin, TX, USA (pp. 49–52).
-
(2013)
2013 IEEE Global Conference on Signal and Information Processing
, pp. 49-52
-
-
Huang, Z.1
-
22
-
-
85011835129
-
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics
-
Kalia,S.S. et al. (2017) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet. Med., 19, 249–255.
-
(2017)
Genet. Med.
, vol.19
, pp. 249-255
-
-
Kalia, S.S.1
-
23
-
-
84898639657
-
STORMSeq: An open-source, user-friendly pipeline for processing personal genomics data in the cloud
-
Karczewski,K.J. et al. (2014) STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud. PloS One, 9, e84860.
-
(2014)
PloS One
, vol.9
, pp. e84860
-
-
Karczewski, K.J.1
-
24
-
-
84979585471
-
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
-
Kenna,K.P. et al. (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat. Genet., 48, 1037–1042.
-
(2016)
Nat. Genet.
, vol.48
, pp. 1037-1042
-
-
Kenna, K.P.1
-
25
-
-
84855566198
-
Performance comparison of whole-genome sequencing platforms
-
Lam,H.Y.K. et al. (2011) Performance comparison of whole-genome sequencing platforms. Nat. Biotechnol., 30, 78–82.
-
(2011)
Nat. Biotechnol.
, vol.30
, pp. 78-82
-
-
Lam, H.Y.K.1
-
26
-
-
79959994168
-
Dremel: Interactive Analysis of Web-Scale Datasets
-
Melnik,S. et al. (2011) Dremel: Interactive Analysis of Web-Scale Datasets. Commun. ACM, 54, 114–123.
-
(2011)
Commun. ACM
, vol.54
, pp. 114-123
-
-
Melnik, S.1
-
27
-
-
84939857070
-
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
-
Nagasaki,M. et al. (2015) Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nat. Commun., 6, 8018.
-
(2015)
Nat. Commun.
, vol.6
, pp. 8018
-
-
Nagasaki, M.1
-
28
-
-
84893024407
-
Launching genomics into the cloud: Deployment of Mercury, a next generation sequence analysis pipeline
-
Reid,J.G. et al. (2014) Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics, 15, 30.
-
(2014)
BMC Bioinformatics
, vol.15
, pp. 30
-
-
Reid, J.G.1
-
29
-
-
84938319470
-
Inexpensive and highly reproducible cloud-based variant calling of 2,535 human genomes
-
Shringarpure,S.S. et al. (2015) Inexpensive and highly reproducible cloud-based variant calling of 2,535 human genomes. PloS One, 10, e0129277.
-
(2015)
PloS One
, vol.10
, pp. e0129277
-
-
Shringarpure, S.S.1
-
30
-
-
84956899722
-
Scalable and cost-effective NGS genotyping in the cloud
-
Souilmi,Y. et al. (2015) Scalable and cost-effective NGS genotyping in the cloud. BMC Med. Genomics, 8, 64.
-
(2015)
BMC Med. Genomics
, vol.8
, pp. 64
-
-
Souilmi, Y.1
-
31
-
-
0034975051
-
Transcript map of the 8p23 putative tumor suppressor region
-
Sun,P.C. et al. (2001) Transcript map of the 8p23 putative tumor suppressor region. Genomics, 75, 17–25.
-
(2001)
Genomics
, vol.75
, pp. 17-25
-
-
Sun, P.C.1
-
32
-
-
84991628639
-
Deep sequencing of 10,000 human genomes
-
Telenti,A. et al. (2016) Deep sequencing of 10,000 human genomes. Proc. Natl. Acad. Sci. U.S.A., 113, 11901–11906.
-
(2016)
Proc. Natl. Acad. Sci. U.S.A.
, vol.113
, pp. 11901-11906
-
-
Telenti, A.1
-
33
-
-
84895789502
-
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
-
Thompson,B.A. et al. (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat. Genet., 46, 107–115.
-
(2014)
Nat. Genet.
, vol.46
, pp. 107-115
-
-
Thompson, B.A.1
-
34
-
-
79953165427
-
Quality control procedures for genome-wide association studies
-
Chapter 1, Unit1.19
-
Turner,S. et al. (2011) Quality control procedures for genome-wide association studies. Current Protocols in Human Genetics, Chapter 1, Unit1.19. doi: 10.1002/0471142905.hg0119s68.
-
(2011)
Current Protocols in Human Genetics
-
-
Turner, S.1
-
35
-
-
84979596905
-
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
-
van Rheenen,W. et al. (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat. Genet., 48, 1043–1048.
-
(2016)
Nat. Genet.
, vol.48
, pp. 1043-1048
-
-
Van Rheenen, W.1
-
36
-
-
84902649966
-
QMachine: Commodity supercomputing in web browsers
-
Wilkinson,S.R. and Almeida,J.S. (2014) QMachine: commodity supercomputing in web browsers. BMC Bioinformatics, 15, 176.
-
(2014)
BMC Bioinformatics
, vol.15
, pp. 176
-
-
Wilkinson, S.R.1
Almeida, J.S.2
-
37
-
-
84872333179
-
Deep whole-genome sequencing of 100 southeast Asian Malays
-
Wong,L.-P. et al. (2013) Deep whole-genome sequencing of 100 southeast Asian Malays. Am. J. Hum. Genet., 92, 52–66.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 52-66
-
-
Wong, L.-P.1
-
38
-
-
85014531804
-
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
-
Yuan,R.K.C. et al. (2017) Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience, 20, 602–611.
-
(2017)
Nature Neuroscience
, vol.20
, pp. 602-611
-
-
Yuan, R.K.C.1
|