[HTML][HTML] From next-generation resequencing reads to a high-quality variant data set
SP Pfeifer - Heredity, 2017 - nature.com
Sequencing has revolutionized biology by permitting the analysis of genomic variation at an
unprecedented resolution. High-throughput sequencing is fast and inexpensive, making it …
unprecedented resolution. High-throughput sequencing is fast and inexpensive, making it …
Resources and tools for rare disease variant interpretation
Collectively, rare genetic disorders affect a substantial portion of the world's population. In
most cases, those affected face difficulties in receiving a clinical diagnosis and genetic …
most cases, those affected face difficulties in receiving a clinical diagnosis and genetic …
A survey of computational tools to analyze and interpret whole exome sequencing data
JD Hintzsche, WA Robinson… - International journal of …, 2016 - Wiley Online Library
Whole Exome Sequencing (WES) is the application of the next‐generation technology to
determine the variations in the exome and is becoming a standard approach in studying …
determine the variations in the exome and is becoming a standard approach in studying …
JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene‐variant discovery, annotation, prediction, and genotyping
Whole genome and exome sequencing (WGS/WES) are the most popular next‐generation
sequencing (NGS) methodologies and are at present often used to detect rare and common …
sequencing (NGS) methodologies and are at present often used to detect rare and common …
IMPACT: a whole-exome sequencing analysis pipeline for integrating molecular profiles with actionable therapeutics in clinical samples
Objective Currently, there is a disconnect between finding a patient's relevant molecular
profile and predicting actionable therapeutics. Here we develop and implement the …
profile and predicting actionable therapeutics. Here we develop and implement the …
Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping
Over the last few decades, genomics is leading toward audacious future, and has been
changing our views about conducting biomedical research, studying diseases, and …
changing our views about conducting biomedical research, studying diseases, and …
A bioinformatics pipeline for whole exome sequencing: overview of the processing and steps from raw data to downstream analysis
Abstract Recent advances in Next Generation Sequencing (NGS) technologies have given
an impetus to find causality for rare genetic disorders. Since 2005 and aftermath of the …
an impetus to find causality for rare genetic disorders. Since 2005 and aftermath of the …
Scalable and efficient whole-exome data processing using workflows on the cloud
Dataflow-style workflows offer a simple, high-level programming model for flexible
prototyping of scientific applications as an attractive alternative to low-level scripting. At the …
prototyping of scientific applications as an attractive alternative to low-level scripting. At the …
iWhale: a computational pipeline based on Docker and SCons for detection and annotation of somatic variants in cancer WES data
A Binatti, S Bresolin, S Bortoluzzi… - Briefings in …, 2021 - academic.oup.com
Whole exome sequencing (WES) is a powerful approach for discovering sequence variants
in cancer cells but its time effectiveness is limited by the complexity and issues of WES data …
in cancer cells but its time effectiveness is limited by the complexity and issues of WES data …
[HTML][HTML] Whole-genome re-sequencing of the Baikal seal and other phocid seals for a glimpse into their genetic diversity, demographic history, and phylogeny
M Nebenführ, U Arnason, A Janke - GigaByte, 2024 - pmc.ncbi.nlm.nih.gov
The Baikal seal (Pusa sibirica) is a freshwater seal endemic to Lake Baikal, where it became
landlocked million years ago. It is an abundant species of least concern despite the limited …
landlocked million years ago. It is an abundant species of least concern despite the limited …