Genetic Variation, Comparative Genomics, and the Diagnosis of Disease

Overview

Journal N Engl J Med

Specialty General Medicine

Date 2019 Jul 4

PMID 31269367

Citations 79

Authors

Evan E Eichler

Affiliations

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Citing Articles

Integrated analysis of the complete sequence of a macaque genome.

Zhang S, Xu N, Fu L, Yang X, Ma K, Li Y Nature. 2025; .

PMID: 40011769 DOI: 10.1038/s41586-025-08596-w.

Locityper: targeted genotyping of complex polymorphic genes.

Prodanov T, Plender E, Seebohm G, Meuth S, Eichler E, Marschall T bioRxiv. 2025; .

PMID: 39990346 PMC: 11844405. DOI: 10.1101/2024.05.03.592358.

The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.

Naghinejad M, Parvizpour S, Shekari Khaniani M, Mehri M, Mansoori Derakhshan S, Amirfiroozy A Mol Biol Rep. 2025; 52(1):131.

PMID: 39821465 DOI: 10.1007/s11033-025-10231-w.

A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.

Juan Tan J, Li Z, Porta M, Rajaby R, Lim W, Tan Y Nat Commun. 2024; 15(1):9507.

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Compound Heterozygous Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive -Related Myopathy.

Janssen S, Erbe L, Kneifel M, Vorgerd M, Doring K, Lubieniecki K Int J Mol Sci. 2024; 25(19).

PMID: 39409197 PMC: 11477233. DOI: 10.3390/ijms251910867.

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