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Understanding the contribution of synonymous mutations to human disease
Synonymous mutations—sometimes called'silent'mutations—are now widely acknowledged
to be able to cause changes in protein expression, conformation and function. The recent …
to be able to cause changes in protein expression, conformation and function. The recent …
[PDF][PDF] High-throughput SNP genoty** to accelerate crop improvement.
MJ Thomson - 2014 - Citeseer
Recent advances in next-generation sequencing (NGS) and single nucleotide
polymorphism (SNP) genoty** promise to greatly accelerate crop improvement if properly …
polymorphism (SNP) genoty** promise to greatly accelerate crop improvement if properly …
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
1958 Birth Cohort Controls Jones Richard W. 18 … - Nature, 2007 - nature.com
There is increasing evidence that genome-wide association (GWA) studies represent a
powerful approach to the identification of genes involved in common human diseases. We …
powerful approach to the identification of genes involved in common human diseases. We …
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
Whole-genome association studies present many new statistical and computational
challenges due to the large quantity of data obtained. One of these challenges is haplotype …
challenges due to the large quantity of data obtained. One of these challenges is haplotype …
A haplotype map of the human genome
… Consortium Altshuler David altshuler@ molbio. mgh … - Nature, 2005 - nature.com
Inherited genetic variation has a critical but as yet largely uncharacterized role in human
disease. Here we report a public database of common variation in the human genome: more …
disease. Here we report a public database of common variation in the human genome: more …
Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia
CG Mullighan, S Goorha, I Radtke, CB Miller… - Nature, 2007 - nature.com
Chromosomal aberrations are a hallmark of acute lymphoblastic leukaemia (ALL) but alone
fail to induce leukaemia. To identify cooperating oncogenic lesions, we performed a genome …
fail to induce leukaemia. To identify cooperating oncogenic lesions, we performed a genome …
Rapid and cost-effective polymorphism identification and genoty** using restriction site associated DNA (RAD) markers
R estriction site a ssociated D NA (RAD) tags are a genome-wide representation of every
site of a particular restriction enzyme by short DNA tags. Most organisms segregate large …
site of a particular restriction enzyme by short DNA tags. Most organisms segregate large …
Oncogenic mutations of ALK kinase in neuroblastoma
Y Chen, J Takita, YL Choi, M Kato, M Ohira, M Sanada… - Nature, 2008 - nature.com
Neuroblastoma in advanced stages is one of the most intractable paediatric cancers, even
with recent therapeutic advances. Neuroblastoma harbours a variety of genetic changes …
with recent therapeutic advances. Neuroblastoma harbours a variety of genetic changes …
[HTML][HTML] The REMBRANDT study, a large collection of genomic data from brain cancer patients
The Rembrandt brain cancer dataset includes 671 patients collected from 14 contributing
institutions from 2004–2006. It is accessible for conducting clinical translational research …
institutions from 2004–2006. It is accessible for conducting clinical translational research …