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The discovery of human genetic variations and their use as disease markers: past, present and future.

author

Agus Salim

Yudi Pawitan

published in: Journal of Human Genetics

date of publication: 2010-05-20

Cites articles 133

Date

Title

Authors

2010-04-01

Origins and functional impact of copy number variation in the human genome

Chris Tyler-Smith, Tomas W Fitzgerald, Dalila Pinto, Omer Gokcumen, Kati Kristiansson, Klaudia Walter, Richard Redon, Chris Barnes, Stephen W. Scherer, Jeffrey R MacDonald, Armand Valsesia, Lars Feuk, Donald F Conrad, Matthew Hurles, Kathy Stirrups, Ifejinelo Onyiah, Nigel Carter
2010-01-01

Structural variation in the human genome and its role in disease

James R. Lupski, Pawel Stankiewicz
2010-01

Sequencing technologies - the next generation
2010-01-01

dbSNP in the detail and copy number complexities
2010-02-12

Inversion variants in the human genome: role in disease and genome architecture
2010-02-04

Large, rare chromosomal deletions associated with severe early-onset obesity

Jill Clayton-Smith, Sadia Saeed, Elena G. Bochukova, Julian Hamilton-Shield, Stephen O'Rahilly, Matthew Hurles
2010-03-19

The pursuit of genome-wide association studies: where are we now?

Yudi Pawitan
2010-01-01

Copy number variations and cancer susceptibility

David Malkin
2010-03-09

Trinucleotide repeats in human genome and exome

Piotr Kozlowski, Mateusz de Mezer, Włodzimierz Krzyżosiak
2009-08

Mechanisms of change in gene copy number

James R. Lupski
2009-02-02

Common polymorphic transcript variation in human disease
2009-12-28

Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'.
2009-06-09

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Francis Collins, Teri Manolio, Lucia A Hindorff, Erin M Ramos
2009-06-15

Genomic copy number variation, human health, and disease

Louise Wain, Martin D Tobin
2009-01-01

Copy number variation in human health, disease, and evolution

Feng Zhang, James R. Lupski
2009-01-09

DNA variations in human and medical genetics: 25 years of my experience
2009-05-26

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

Sung-Min Ahn, Ji-Young Cha, Jong Bhak
2009-08-10

Single-molecule sequencing of an individual human genome

Stephen Quake
2009-08-01

Individualization of thiopurine therapy: thiopurine S-methyltransferase and beyond
2009-12-11

Mapping human genetic diversity in Asia

Amit Chaurasia, Jieming Chen, Maria Corazon A De Ungria, Ikhlak Ahmed, Maude E Phipps, Bin Alwi Zilfalil, Sissades Tongsima, Mark Seielstad, Vinod Scaria, Herawati Sudoyo, Takashi Gojobori, Mitali Mukerji, Yuan-Tsong Chen, Partha P Majumder, Jong Bhak, Carmencita D. Padilla
2009-01-01

Genotyping technologies for genetic research
2009-05-28

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Geraldine Dawson, Hakon Hakonarson, Marcin Imielinski, Annette Estes, James S. Sutcliffe, John I. Nurnberger, Joseph Buxbaum, Thomas H Wassink, Nancy J Minshew, Evdokia Anagnostou, Edwin H Cook, Lambertus Klei, Joseph Piven, Kai Wang, Kelly A Thomas, Struan F.A. Grant, Edward C. Frackelton, Kiran Annaiah, Jonathan P Bradfield, Rosetta M. Chiavacci, Patrick M Sleiman, Wendy Robin Glaberson, Joseph Glessner, Cuiping Hou, James H Flory, Maja Bucan, Jeffrey Munson, Olena Korvatska, Thomas Owley, Camille W Brune, Hilary Coon, Susan E Levy, Frederick C F Otieno, Latha Soorya, Danielle Zurawiecki, Bernie Devlin, Christopher J McDougle, Jeremy Silverman, William M. McMahon
2009-02-27

Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage

Elaine Ostrander, Liesel FitzGerald, Shannon K McDonnell, Janet L Stanford, Erin E Carlson, Laura McIntosh, Kerry Deutsch
2009-03-26

Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18

Jeffery M. Vance
2009-04-01

Human genetic variation and its contribution to complex traits

Kelly A. Frazer, Eric Topol
2009-05-28

Common vs. rare allele hypotheses for complex diseases

Eric Topol, Nicholas J Schork
2009-04-17

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

Neil M Walker, John A. Todd, Sergey Nejentsev
2009-09-10

Targeted capture and massively parallel sequencing of 12 human exomes

Jay Shendure, Evan E. Eichler, Emily H Turner, Deborah A Nickerson, Choli Lee, Michael J Bamshad, Abigail W Bigham, Arindam Bhattacharjee
2009-07-10

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Joseph Glessner, Hongbo M. Xie, Monica D'Arcy, Struan F.A. Grant, Elizabeth Goldmuntz, Marcin Imielinski, Hakon Hakonarson, Tamim H Shaikh, Xiaowu Gai, Juan C Perin, Tracy Casalunovo, Laura K Conlin, Edward C. Frackelton, Kiran Annaiah, Jonathan P Bradfield, Andrew J Eckert, Chioma C Onyiah, George Otieno Ong'amo, Julie L Shaner, Robert Skraban, Nancy B Spinner, Elaine Zackai, Rosetta M. Chiavacci, Robert W Grundmeier, Eric F Rappaport
2009-01-22

Population analysis of large copy number variants and hotspots of human genetic disease

Devin Absher, Paul Ridker, Daniel I Chasman, Deborah A Nickerson, Heather C. Mefford, Evan E. Eichler, Carl Edward Baker
2009-11-01

Computational methods for discovering structural variation with next-generation sequencing

Michael Brudno
2009-06-22

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

Kevin McKernan, Alan P Blanchard, Jeffrey M. Kidd, Can Alkan, Vineet Bafna, Evan E. Eichler

Article - wd:Q37756529

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