Understanding the contribution of synonymous mutations to human disease

ZE Sauna, C Kimchi-Sarfaty - Nature Reviews Genetics, 2011 - nature.com
Synonymous mutations—sometimes called'silent'mutations—are now widely acknowledged
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 …

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 …

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

SR Browning, BL Browning - The American Journal of Human Genetics, 2007 - cell.com
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 …

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 …

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 …

Rapid and cost-effective polymorphism identification and genoty** using restriction site associated DNA (RAD) markers

MR Miller, JP Dunham, A Amores, WA Cresko… - Genome …, 2007 - genome.cshlp.org
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 …

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 …

[HTML][HTML] The REMBRANDT study, a large collection of genomic data from brain cancer patients

Y Gusev, K Bhuvaneshwar, L Song, JC Zenklusen… - Scientific data, 2018 - nature.com
The Rembrandt brain cancer dataset includes 671 patients collected from 14 contributing
institutions from 2004–2006. It is accessible for conducting clinical translational research …