100,000 genomes pilot on rare-disease diagnosis in health care ? preliminary report

نویسندگان

چکیده

Brief summary: This paper describes the pilot data for UK 100 000 Genomes Project, including Whole Genome Sequencing (WGS) on 4660 participants from 2183 families, and covering 161 disorders. They made a genetic diagnosis in 25% of probands; diagnoses were more likely probands who presented with intellectual disability, hearing, or visual disorders (range 40% to 55%) cases had WGS family trios (both their parents) larger pedigrees. Of made, immediate implications clinical decisions relatives.

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ژورنال

عنوان ژورنال: Yearbook of pediatric endocrinology

سال: 2022

ISSN: ['1662-3991', '1662-4009']

DOI: https://doi.org/10.1530/ey.19.15.16