Tuesday, December 16, 2014

Convert SRA to FASTQ

http://www.ncbi.nlm.nih.gov/sites/books/NBK158900/

./sratoolkit.2.4.2-ubuntu64/bin/fastq-dump --split-3 -L info --gzip -v SRR1131659

Friday, December 12, 2014

Oracle Health Sciences Translational Research Center: A Translational Medicine Platform to Address the Big Data Challenge

http://www.oracle.com/us/industries/healthcare/translational-medicine-platform-wp-1840042.pdf

Oracle, on the Oracle Health Sciences Translational Research Center, a scalable informatics solution for translational research. Its back-end data components seamlessly integrate clinical and omics data from diverse clinical data sources as well as from vendor-specific and modality-specific omics data silos, providing standardized data readily available for the front-end application. 

Tuesday, December 9, 2014

Finding overlap between two lists in Excel

Function

=COUNTIF(C:C,K4)

Where C:C contains one list and K4 is the value. Simply drag and drop this formula for all other values in the "K" column!

Monday, December 8, 2014

Eclipse misbehaving

If eclipse is misbehaving for some reasons, context menu not appearing, right-click does nothing ...

backup and remove ~/workspace/.metadata/.plugins

Or

Switch to a new workspace

Friday, December 5, 2014

Compound heterozygote

Compound heterozygote: The presence of two different mutant alleles at a particular gene locus, one on each chromosome of a pair.
The human genome contains two copies of each gene, a paternal and a maternal allele. A mutation affecting only one allele is called heterozygous. Ahomozygous mutation is the presence of the identical mutation on both alleles of a specific gene. However, when both alleles of a gene harbor mutations, but the mutations are different, these mutations are called compound heterozygous. Also called a genetic compound.

An individual who has two different abnormal alleles at a particular locus, one on each chromosome of a pair; usually refers to individuals affected with an autosomal recessive disorder

or they can be mutations at different locus of the same gene.

Syndromic vs non-syndromic (not associated with anything else, specific)

http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness

Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Different types of nonsyndromic deafness are named according to their inheritance patterns.

Tuesday, December 2, 2014