Genome structural variation discovery and genotyping
Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …
structural variation—including copy number variation—than as a result of point mutations …
Limitations of next-generation genome sequence assembly
C Alkan, S Sajjadian, EE Eichler - Nature methods, 2011 - nature.com
High-throughput sequencing technologies promise to transform the fields of genetics and
comparative biology by delivering tens of thousands of genomes in the near future. Although …
comparative biology by delivering tens of thousands of genomes in the near future. Although …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing
Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …
impact the functions of the genes encoded in the genome and are responsible for diverse …
Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications
High-throughput DNA sequencing technology has transformed genetic research and is
starting to make an impact on clinical practice. However, analyzing high-throughput …
starting to make an impact on clinical practice. However, analyzing high-throughput …
Discovery and genotyping of structural variation from long-read haploid genome sequence data
In an effort to more fully understand the full spectrum of human genetic variation, we
generated deep single-molecule, real-time (SMRT) sequencing data from two haploid …
generated deep single-molecule, real-time (SMRT) sequencing data from two haploid …
Fast identification and removal of sequence contamination from genomic and metagenomic datasets
R Schmieder, R Edwards - PloS one, 2011 - journals.plos.org
High-throughput sequencing technologies have strongly impacted microbiology, providing a
rapid and cost-effective way of generating draft genomes and exploring microbial diversity …
rapid and cost-effective way of generating draft genomes and exploring microbial diversity …
Modernizing reference genome assemblies
DM Church, VA Schneider, T Graves, K Auger… - PLoS …, 2011 - journals.plos.org
The availability of a high quality human genome assembly has revolutionized biomedical
research. Genomics has now entered the realm of clinical genetics, with many groups using …
research. Genomics has now entered the realm of clinical genetics, with many groups using …
[HTML][HTML] Next-generation sequencing for cancer diagnostics: a practical perspective
C Meldrum, MA Doyle, RW Tothill - The Clinical Biochemist …, 2011 - ncbi.nlm.nih.gov
Next-generation sequencing (NGS) is arguably one of the most significant technological
advances in the biological sciences of the last 30 years. The second generation sequencing …
advances in the biological sciences of the last 30 years. The second generation sequencing …
A user's guide to the encyclopedia of DNA elements (ENCODE)
ENCODE Project Consortium - PLoS biology, 2011 - journals.plos.org
The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the
scientific and medical communities to interpret the human genome sequence and apply it to …
scientific and medical communities to interpret the human genome sequence and apply it to …