BOL: Related items

GRASS: a generic algorithm for scaffolding next-generation sequencing assemblies.

Abhimanyu Singh — Tue, 23 May 2017 05:20:32 -0500

GRASS (GeneRic ASsembly Scaffolder)-a novel algorithm for scaffolding second-generation sequencing assemblies capable of using diverse information sources. GRASS offers a mixed-integer programming formulation of the contig scaffolding problem, which combines contig order, distance and orientation in a single optimization objective. The resulting optimization problem is solved using an expectation-maximization procedure and an unconstrained binary quadratic programming approximation of the original problem. We compared GRASS with existing HTS scaffolders using Illumina paired reads of three bacterial genomes. Our algorithm constructs a comparable number of scaffolds, but makes fewer errors. This result is further improved when additional data, in the form of related genome sequences, are used.

Address of the bookmark: https://github.com/AlexeyG/GRASS

MetaSim A Sequencing Simulator for Genomics and Metagenomics.

Jit — Mon, 04 Dec 2017 07:18:20 -0600

Our software can be used to generate collections of synthetic reads that reflect the diverse taxonomical composition of typical metagenome data sets. Based on a database of given genomes, the program allows the user to design a metagenome by specifying the number of genomes present at different levels of the NCBI taxonomy, and then to collect reads from the metagenome using a simulation of a number of different sequencing technologies. A population sampler optionally produces evolved sequences based on source genomes and a given evolutionary tree.

Address of the bookmark: http://ab.inf.uni-tuebingen.de/software/metasim/

Apollo: A Sequencing-Technology-Independent, Scalable, and Accurate Assembly Polishing Algorithm

BioStar — Mon, 16 Mar 2020 10:09:26 -0500

Apollo is an assembly polishing algorithm that attempts to correct the errors in an assembly. It can take multiple set of reads in a single run and polish the assemblies of genomes of any size. Described by Firtina et al. (preliminary version at https://arxiv.org/pdf/1902.04341.pdf

More at https://academic.oup.com/bioinformatics/advance-article/doi/10.1093/bioinformatics/btaa179/5804978?rss=1

Address of the bookmark: https://github.com/CMU-SAFARI/Apollo

Entire Human Genome Sequencing !

LEGE — Tue, 02 Apr 2024 01:19:29 -0500

Cost-effective whole human genome sequencing has revolutionized the landscape of genetic research and personalized medicine by making comprehensive genetic analysis accessible to a wider population. Through advancements in sequencing technologies, such as next-generation sequencing (NGS), costs have significantly decreased, enabling researchers and healthcare providers to analyze an individual's complete genetic makeup with greater efficiency and affordability. This has profound implications for disease diagnosis, prognosis, and treatment, as it allows for the identification of genetic predispositions and the customization of healthcare interventions based on an individual's unique genetic profile. Moreover, as the cost continues to decline, the potential for population-scale genomic studies and large-scale screening programs becomes increasingly feasible, promising to further enhance our understanding of human genetics and improve healthcare outcomes on a global scale.

Here are few companies:

https://mynucleus.com/

https://myome.com/

https://nebula.org/whole-genome-sequencing-dna-test/

Compressive Genomics

Rahul Agarwal — Sun, 11 Aug 2013 11:13:58 -0500

The key to finding a solution is to notice that most genomicsequences differ by very little. It may well be that the number of complete genome sequences being stored is increasing rapidly, but the actual amount of new data is very small. In other words, a single DNA sequence isn't particularly compressible but a set of sequences shares so much in common that the redundancy can be used to store them in a much smaller storage space. (Source:e-article from Alex Armstrong)

http://www.i-programmer.info/news/181-algorithms/4537-a-new-dna-sequence-search-compressive-genomics.html

http://en.wikipedia.org/wiki/Compression_of_Genomic_Re-Sequencing_Data

http://www.nature.com/nbt/journal/v30/n7/full/nbt.2241.html

http://bioinformatics.oxfordjournals.org/content/29/13/i283.full

http://groups.csail.mit.edu/cb/cast/

Precision Medicine

Rahul Agarwal — Sat, 24 Aug 2013 15:47:03 -0500

Coupling established clinical–pathological indexes with state-of-the-art molecular profiling to create diagnostic, prognostic, and therapeutic strategies precisely tailored to each patient's requirements — hence the term “Precision medicine”

Source:http://www.nejm.org/doi/full/10.1056/NEJMp1114866

Another video on precision medicine:

http://www.youtube.com/watch?v=Pi8W0yOXnzE

Precision Medicine basically intergrates bioinformatics, genomics , genetics, molecular biology and nanotechnology to deliver precise cure/diagnotics to a specific patient.

Examples:

The drug imatinib (Gleevec) designed to inhibit an altered enzyme produced by a fused version of two genes found in chronic myelogenous leukemia.
The breast cancer drug trastuzumab (Herceptin) works only for women whose tumors have a particular genetic profile called HER-2 positive.

E.g. source :

http://www.bionews-tx.com/news/2013/08/15/how-the-impact-of-cancer-genomics-on-precision-medicine-is-revolutionizing-cancer-treatment/

Address of the bookmark: http://www.cbsnews.com/video/watch/?id=50149783n

Bioinformatics market in India

Rahul Agarwal — Fri, 23 Aug 2013 07:08:49 -0500

Key Topics Covered in the Report:

The market size of the Indian Bioinformatics Industry , FY’2007-FY’2013
Market segmentation of India bioinformatics industry by application by sectors, FY’2007-FY’2013
Market Segmentation of India bioinformatics industry by products and services,FY’2007-FY’2013
Market Segmentation of India bioinformatics industry by applications of bioinformatics ,FY’2007-FY’2013
India bioinformatics industry trends and developments
Government regulations and initiatives of India bioinformatics industry
Major bioinformatics research institutes in India
Market Share of leading players in bioinformatics industry in India,FY’2013
Company profiles of major players in India bioinformatics industry
Future outlook and projections on the basis of revenue in India bioinformatics market, FY’2014-FY’2018

(Source: Ken Research)

Address of the bookmark: http://www.kenresearch.com/healthcare/biotechnology/india-bioinformatics-industry-research-report/392-91.html

Zombies like bacteria!!!

Rahul Agarwal — Tue, 03 Sep 2013 08:44:15 -0500

Do you believe in Zombies stories … Hmm confused? Don’t worry there is a news for you. Scientists from the Integrated Ocean Drilling Program have announced the findings of the long-lived bacteria, reproducing only once every 10,000 years, which have been found in rocks 2.5km (1.5 miles) below the ocean floor that are as much as 100 million years old.

" the microbes exist in very low concentrations, of around 1,000 microbes in every tea spoon full of rock, compared with billions or trillions of bacteria that would typically be found in the same amount of soil at Earth's surface."

Reference:

http://www.bbc.co.uk/news/science-environment-23855436

Introduction of Epigenomics

Rahul Agarwal — Sun, 06 Oct 2013 04:59:30 -0500

Address of the bookmark: http://www.genome.gov/27532724

A-allele of SLC24A5 gene is found to be responsible for variation in skin color of South-East Asians and Europeans

Rahul Agarwal — Tue, 12 Nov 2013 21:02:27 -0600

Key finding:

rs1426654 SNP of SLC24A5 gene is decider of skin pigmentation variation in South Asia
rs1426654-A allele is widely spread throughout the Indian subcontinent
Skin pigmentation is also account by the combination of processes like selection and demographic history of populations affected by their language and origin
Sign of positive selection in Europeans, Middle East, Pakistan, Central Asia and North India but not in South India
In European , A-allele is almost reached to fixation

Paper:

http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003912