Article

Challenges in implementing genomic medicine: the 100,000 Genomes Project

2018-01-01

Abstract excerpt

Many important medical conditions may be the result of an inherited mutation in one of a number of different genes. Technical advances have reduced the cost of whole genome sequencing and whole exome sequencing to a level where it is now feasible to analyse multiple genes in one test. Every human carries several hundred potentially pathogenic coding variants, so a major challenge is to understand which of these is...

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Literature Corpus work: 9f9b71d3-cb99-5d5e-8bac-857b5cb52a50
DOI: 10.20517/jtgg.2018.17

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