Low-Pass Genome Sequencing
Author:
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference27 articles.
1. Population analysis of large copy number variants and hotspots of human genetic disease;Itsara;Am J Hum Genet,2009
2. A global reference for human genetic variation;Nature,2015
3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
4. Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach;Yamamoto;Hum Genome Var,2016
5. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010
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2. Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries;American Journal of Medical Genetics Part A;2024-06-25
3. Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent;The Journal of Molecular Diagnostics;2024-06
4. Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing;Human Mutation;2024-04-23
5. A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians using Exome Sequencing;2024-04-22
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