MutaDATABASE: a centralized and standardized DNA variation database - Nature Biotechnology
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Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing | Science Translational Medicine
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing Callum J. Bell1,*, Darrell L. Dinwiddie1,2,*, Neil A. Miller1,2, Shannon L. Hateley1, Elena E. Ganusova1, Joann Mudge1, Ray J. Langley1, Lu Zhang3, Clarence C. Lee4, Faye D. Schilkey1, Vrunda Sheth4, Jimmy E. Woodward1, Heather E. Peckham4, Gary P. Schroth3, Ryan W. Kim1 and Stephen F. Kingsmore1,2,†1National Cen
The First Child Saved By DNA Sequencing
Since he was a toddler, six-year-old Nicholas Volker's intestine had been dangerously inflamed, necessitating a hundred surgeries including the removal of his colon. No one knew the cause, but it seemed certain that the boy was dying. In a desperate attempt to figure out what was wrong, doctors at the Medical College of Wisconsin did something desperate and unproven: they sequenced his DNA. The do
U.K. to Sequence 10,000 Genomes in 3 Years to Shed Light on Diseases - ScienceInsider
U.K. to Sequence 10,000 Genomes in 3 Years to Shed Light on Diseases Today at the Science Museum in London, as part of a ceremony for the 10th anniversary of the completion of the first draft of the human genome, the Wellcome Trust announced the UK10K project to sequence the genomes of 10,000 people in the United Kingdom over the next 3 years. According to Richard Durbin, the leader of the UK10K p
10,000 NHS patients 'to have genes mapped'
An NHS hospital has begun decoding all the genes of individual patients, 10 years after the first human genome sequence was published. London's Royal Brompton Hospital said the project would give doctors a better understanding of the inherited factors that help trigger heart disease. The research involves sequencing all 22,000 genes found in the human genome in 10,000 patients. It heralds more per
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Home - QIAGEN Digital Insights
A Guide to the Exome Aggregation Consortium (ExAC) Data Set
GitHub - konradjk/loftee
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
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IBD2: An R Script for performing IBD=2 analysis on exome sequencing data - Computational Biology Group
KGGSeq: A biological Knowledge-based mining platform for Genomic and Genetic studies using Sequence data
The Sequence Ontology - Resources - GVF
PLINK/SEQ for Analyzing Large-Scale Genome Sequencing Data
PLINK/SEQ genetics library
NOTCH2 backstage
One more step towards the end of recessive diseases : Genetic Future
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome - Nature Genetics