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tag single nucleotide polymorphism immunology disease medicine genetics genomics

Single Nucleotide Polymorphisms: Big Pharma Hedges its Bets
Eugene Russo | Jul 18, 1999 | 7 min read
SNP CENTRAL: A genetics researcher takes to the bench at the Wellcome Trust's Sanger Centre in Cambridge, England. The sequencing center and its London sponsor provided key leadership in the SNP Consortium, a public-private venture to find and map 300,000 single nucleotide polymorphisms. The Wellcome Trust helped entice 10 pharmaceutical firms to join the consortium by putting up $14 million of the project's estimated $45 million price tag. The Sanger Centre will provide much of the radiation h
DNA molecule.
Finding DNA Tags in AAV Stacks
Mariella Bodemeier Loayza Careaga, PhD | Mar 7, 2024 | 8 min read
Ten years ago, scientists put DNA barcodes in AAV vectors, creating an approach that simplified, expedited, and streamlined AAV screening. 
GWAS, psychotic disorder, mood disorder, Q&A, bipolar disorder, schizophrenia, depression, sex differences
Genetic Variants Tied to Sex Differences in Psychiatric Disorders
Amanda Heidt | Mar 31, 2021 | 5 min read
The largest study of its kind identifies single nucleotide polymorphisms with disparate effects on men’s and women’s susceptibility to conditions such as bipolar disorder and schizophrenia.
2022 Top 10 Innovations 
2022 Top 10 Innovations
The Scientist | Dec 12, 2022 | 10+ min read
This year’s crop of winning products features many with a clinical focus and others that represent significant advances in sequencing, single-cell analysis, and more.
Artist&rsquo;s rendition of multiple <em>Neisseria gonorrhoeae</em>, the bacteria that causes gonorrhea, depicted as two spheres stuck together, each covered in tendrils.
Gonorrhea-Blocking Mutation Also Protects Against Alzheimer’s: Study
Holly Barker, PhD | Aug 5, 2022 | 4 min read
Research traces the evolution of a gene variant that reduces the risk of Alzheimer’s disease, finding that it originally evolved in response to infectious bacteria.
ABI Poised to Break the SNP Genotyping Speed Barrier?
Deborah Stull | Mar 23, 2003 | 2 min read
Courtesy of Applied Biosystems Single nucleotide polymorphisms--variations at specific nucleotide positions in the genome sequences of two individuals--are perhaps the most common form of genetic diversity; it is estimated that 3-10 million SNPs are present in the human genome. Researchers use these markers to map disease genes, and in the burgeoning field of pharmacogenomics (personalized medicine). Such research necessarily requires the ability to genotype on a grand scale, but until recent
Whole-Genome SNP Genotyping
Marilee Ogren | Jun 1, 2003 | 8 min read
Clockwise from top left: images courtesy of Affymetrix, Illumina, Sequenom and Illumina Take any two individuals, sequence and compare their genomic DNA, and you'll find that the vast majority (about 99.9%) of the sequences are identical. In the remaining 0.1% lie differences in disease susceptibility, environmental response, and drug metabolism. Researchers are understandably keen to dissect these variations, most of which take the form of single-nucleotide polymorphisms (SNPs). A SNP (pron
Small Changes, Big Consequences
Small Changes, Big Consequences
Niki Spahich, PhD | Aug 23, 2022 | 3 min read
To understand the mechanisms behind severe COVID-19, researchers identified common COVID-19 genetic risk variants that affect immune cell function.
The Pangenome: Are Single Reference Genomes Dead?
Catherine Offord | Dec 1, 2016 | 10+ min read
Researchers are abandoning the concept of a list of genes sequenced from a single individual, instead aiming for a way to describe all the genetic variation within a species.
Illustration showing a puzzle piece of DNA being removed
Large Scientific Collaborations Aim to Complete Human Genome
Brianna Chrisman and Jordan Eizenga | Sep 1, 2022 | 10+ min read
Thirty years out from the start of the Human Genome Project, researchers have finally finished sequencing the full 3 billion bases of a person’s genetic code. But even a complete reference genome has its shortcomings.

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