Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
Germline CNV detection through whole-exome sequencing (WES) Data Analysis enhances Resolution of Rare Genetic Diseases
Whole-Exome Sequencing (WES) has proven valuable in the characterization of underlying
genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially …
genetic defects in most rare diseases (RDs). Copy Number Variants (CNVs) were initially …
Quantifying and reducing cross‐contamination in single‐and multiplex hybridization capture of ancient DNA
EI Zavala, A Aximu‐Petri, J Richter… - Molecular Ecology …, 2022 - Wiley Online Library
The use of hybridization capture has enabled a massive upscaling in sample sizes for
ancient DNA studies, allowing the analysis of hundreds of skeletal remains or sediments in …
ancient DNA studies, allowing the analysis of hundreds of skeletal remains or sediments in …