Results 231 to 240 of about 9,621,488 (249)

Identification of copy number variants by NGS-based NIPT at low sequencing depth

European Journal of Obstetrics, Gynecology and Reproductive Biology, 2021
Dunjin Chen, Jiayan Wang
exaly  

Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies

American Journal of Obstetrics & Gynecology MFM, 2023
Lena Sagi-Dain, Idit Maya, Cochava Klein
exaly  

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

American Journal of Psychiatry, 2021
Sébastien Jacquemont, Louise Gallagher, Jeremy Hall   +2 more
exaly  

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Forensic Science International: Genetics, 2020
Oscar Campuzano, Alexandra Pérez-Serra
exaly  

Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number

Human Genetics and Genomics Advances, 2023
Nathan Pankratz, Dan E Arking, Vamsee Pillalamarri   +2 more
exaly  

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Frontiers in Genetics, 2020
Ruolan Guo, Jun Guo
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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Genetics in Medicine, 2011
Fabiola Quintero-Rivera, Erik C Thorland
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Copy number variants outperform SNPs to reveal genotype–temperature association in a marine species

Molecular Ecology, 2020
Martin Laporte, Hugo Cayuela, Kyle W Wellband   +2 more
exaly  

Incidental copy-number variants identified by routine genome testing in a clinical population

Genetics in Medicine, 2013
Chad Shaw, Philip M. Boone, James R. Lupski   +2 more
exaly  

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Genetics in Medicine, 2020
Duanjun Tan, Tracy Brandt, Daniela Del Gaudio   +2 more
exaly