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Exome Sequencing Makes Medical Genomics a Reality

Overview
Journal Nat Genet
Specialty Genetics
Date 2009 Dec 29
PMID 20037612
Citations 69
Authors
Leslie G Biesecker
Affiliations
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Abstract

Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.

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Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application.

Shah P, Hughes E, Sukhadia S, Green D, Houde B, Tsongalis G J Mol Diagn. 2024; 26(9):815-824.

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The use of next-generation sequencing in personalized medicine.

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Opportunities and challenges for the use of common controls in sequencing studies.

Wojcik G, Murphy J, Edelson J, Gignoux C, Ioannidis A, Manning A Nat Rev Genet. 2022; 23(11):665-679.

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Centers for Mendelian Genomics: A decade of facilitating gene discovery.

Baxter S, Posey J, Lake N, Sobreira N, Chong J, Buyske S Genet Med. 2022; 24(4):784-797.

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