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ABIOTEQ: AI/ML, IoT & BioTech based Tech & R&D Firm
https://bdataanalytics.biomedcentral.com/articles/10.1186/s41044-018-0030-3
RARE DISEASES
These are the staggering figures today:
There are about 7000 rare diseases affecting over 300 million people worldwide
a vast majority of rare diseases lack a therapeutic option
4 years is the average time it takes to get a diagnosis for known rare diseases
50% of patients do not have a confirmed molecular diagnosis
For 52% of patients and carers, their condition has a severe impact on their daily lives
Abhishek Narain Singh, Bioinformatics Component in Personalized Medicine, BIOCOMP'13, The 14th International Conference on Bioinformatics and Computational Biology, July 22-25, 2013, Las Vegas, USA http://tinyurl.com/BIOCOMB13 .
DNA Sequencing technology has come a long way from what it started initially as Sanger Sequencing. Particularly the drop in price enables the technology to reach out to common masses such as for Personalized Genomics. In this mini-review paper, I talk about some critical factors to look at before planning your sequencing:
Singh AN (2022) Three Essential Factors in Whole-Genome Sequencing for Clinical Applications. J Proteomics Bioinform. 15:605.
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