A field guide to whole‐genome sequencing, assembly and annotation
Genome sequencing projects were long confined to biomedical model organisms and
required the concerted effort of large consortia. Rapid progress in high‐throughput …
required the concerted effort of large consortia. Rapid progress in high‐throughput …
A survey of tools for variant analysis of next-generation genome sequencing data
S Pabinger, A Dander, M Fischer… - Briefings in …, 2014 - academic.oup.com
Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …
Advanced applications of RNA sequencing and challenges
Next-generation sequencing technologies have revolutionarily advanced sequence-based
research with the advantages of high-throughput, high-sensitivity, and high-speed. RNA-seq …
research with the advantages of high-throughput, high-sensitivity, and high-speed. RNA-seq …
Principles of transcriptome analysis and gene expression quantification: an RNA‐seq tutorial
JBW Wolf - Molecular ecology resources, 2013 - Wiley Online Library
Genome‐wide analyses and high‐throughput screening was long reserved for biomedical
applications and genetic model organisms. With the rapid development of massively parallel …
applications and genetic model organisms. With the rapid development of massively parallel …
Benchmarking short sequence mapping tools
A Hatem, D Bozdağ, AE Toland, ÜV Çatalyürek - BMC bioinformatics, 2013 - Springer
Background The development of next-generation sequencing instruments has led to the
generation of millions of short sequences in a single run. The process of aligning these …
generation of millions of short sequences in a single run. The process of aligning these …
Variant callers for next-generation sequencing data: a comparison study
Next generation sequencing (NGS) has been leading the genetic study of human disease
into an era of unprecedented productivity. Many bioinformatics pipelines have been …
into an era of unprecedented productivity. Many bioinformatics pipelines have been …
Next-generation sequencing: advantages, disadvantages, and future
It has been more than 35 years since the development of the groundbreaking method for
DNA sequencing by Frederick Sanger and colleagues. This revolutionary study triggered the …
DNA sequencing by Frederick Sanger and colleagues. This revolutionary study triggered the …
Whole exome and whole genome sequencing
D Bick, D Dimmock - Current opinion in pediatrics, 2011 - journals.lww.com
Whole exome and whole genome sequencing : Current Opinion in Pediatrics Whole exome
and whole genome sequencing : Current Opinion in Pediatrics Log in or Register Subscribe to …
and whole genome sequencing : Current Opinion in Pediatrics Log in or Register Subscribe to …
Rapid De Novo Evolution of X Chromosome Dosage Compensation in Silene latifolia, a Plant with Young Sex Chromosomes
Silene latifolia is a dioecious plant with heteromorphic sex chromosomes that have
originated only∼ 10 million years ago and is a promising model organism to study sex …
originated only∼ 10 million years ago and is a promising model organism to study sex …
[HTML][HTML] Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics
RR Gullapalli, KV Desai, L Santana-Santos… - Journal of pathology …, 2012 - Elsevier
Abstract The Human Genome Project (HGP) provided the initial draft of mankind's DNA
sequence in 2001. The HGP was produced by 23 collaborating laboratories using Sanger …
sequence in 2001. The HGP was produced by 23 collaborating laboratories using Sanger …