Current clinical next-generation sequencing is done by using gene panels and exome
analysis, both of which involve selective capturing of target regions. However, capturing has …

For next‐generation sequencing technologies, sufficient base‐pair coverage is the foremost
requirement for the reliable detection of genomic variants. We investigated whether whole …

Purpose: Chromosomal microarray analysis is the gold standard for copy-number variant
(CNV) detection in prenatal and postnatal diagnosis. We aimed to determine whether next …

Understanding the factors that affect water quality and the ecological services provided by
freshwater ecosystems is an urgent global environmental issue. Predicting how water quality …

Shotgun sequencing is a high-throughput method used to detect copy number variants
(CNVs). Although there are numerous CNV detection tools based on shotgun sequencing …

Whole-genome sequencing data allow detection of copy number variation (CNV) at high
resolution. However, estimation based on read coverage along the genome suffers from …

Patients with inborn errors of immunity (IEI) present with a heterogeneous clinical and
immunological phenotype, therefore a correct molecular diagnosis is crucial for the …

Recent advances in high-throughput sequencing (HTS) technologies and computing
capacity have produced unprecedented amounts of genomic data that have unraveled the …

Background The increasing amount of sequencing data available for a wide variety of
species can be theoretically used for detecting copy number variations (CNVs) at the …

Next‐generation sequencing (NGS) facilitates comprehensive molecular analyses that help
with diagnosing unsolved disorders. In addition to detecting single‐nucleotide variations …