Best practices for variant calling in clinical sequencing
DC Koboldt - Genome Medicine, 2020 - Springer
Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
Sequencing depth and coverage: key considerations in genomic analyses
Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …
capabilities of many laboratories. However, sequencing costs often set limits to the amount …
CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing
Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
Tissue-specific mutation accumulation in human adult stem cells during life
F Blokzijl, J De Ligt, M Jager, V Sasselli, S Roerink… - Nature, 2016 - nature.com
The gradual accumulation of genetic mutations in human adult stem cells (ASCs) during life
is associated with various age-related diseases, including cancer,. Extreme variation in …
is associated with various age-related diseases, including cancer,. Extreme variation in …
[HTML][HTML] A prospective study of sudden cardiac death among children and young adults
Background Sudden cardiac death among children and young adults is a devastating event.
We performed a prospective, population-based, clinical and genetic study of sudden cardiac …
We performed a prospective, population-based, clinical and genetic study of sudden cardiac …
The ExAC browser: displaying reference data information from over 60 000 exomes
Worldwide, hundreds of thousands of humans have had their genomes or exomes
sequenced, and access to the resulting data sets can provide valuable information for …
sequenced, and access to the resulting data sets can provide valuable information for …
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …
The role of exome sequencing in newborn screening for inborn errors of metabolism
Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …
Excess of rare, inherited truncating mutations in autism
To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …