The ENCODE blacklist: identification of problematic regions of the genome

HM Amemiya, A Kundaje, AP Boyle - Scientific reports, 2019 - nature.com
Functional genomics assays based on high-throughput sequencing greatly expand our
ability to understand the genome. Here, we define the ENCODE blacklist-a comprehensive …

Sequence census methods for functional genomics

B Wold, RM Myers - Nature methods, 2008 - nature.com
Sequence census methods for functional genomics | Nature Methods Skip to main content
Thank you for visiting nature.com. You are using a browser version with limited support for …

Finding function: evaluation methods for functional genomic data

CL Myers, DR Barrett, MA Hibbs, C Huttenhower… - BMC genomics, 2006 - Springer
Background Accurate evaluation of the quality of genomic or proteomic data and
computational methods is vital to our ability to use them for formulating novel biological …

Systematic genome-wide screens of gene function

AE Carpenter, DM Sabatini - Nature Reviews Genetics, 2004 - nature.com
By using genome information to create tools for perturbing gene function, it is now possible
to undertake systematic genome-wide functional screens that examine the contribution of …

Next generation sequencing in functional genomics

T Werner - Briefings in bioinformatics, 2010 - academic.oup.com
Genome-wide sequencing has enabled modern biomedical research to relate more and
more events in healthy as well as disease-affected cells and tissues to the genomic …

Pyicos: a versatile toolkit for the analysis of high-throughput sequencing data

S Althammer, J González-Vallinas, C Ballaré… - …, 2011 - academic.oup.com
Motivation: High-throughput sequencing (HTS) has revolutionized gene regulation studies
and is now fundamental for the detection of protein–DNA and protein–RNA binding, as well …

Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings

KB Hwang, IH Lee, H Li, DG Won… - Scientific reports, 2019 - nature.com
Comprehensive and accurate detection of variants from whole-genome sequencing (WGS)
is a strong prerequisite for translational genomic medicine; however, low concordance …

False positive peaks in ChIP-seq and other sequencing-based functional assays caused by unannotated high copy number regions

JK Pickrell, DJ Gaffney, Y Gilad, JK Pritchard - Bioinformatics, 2011 - academic.oup.com
Motivation: Sequencing-based assays such as ChIP-seq, DNase-seq and MNase-seq have
become important tools for genome annotation. In these assays, short sequence reads …

Next-generation sequencing data interpretation: enhancing reproducibility and accessibility

A Nekrutenko, J Taylor - Nature Reviews Genetics, 2012 - nature.com
Areas of life sciences research that were previously distant from each other in ideology,
analysis practices and toolkits, such as microbial ecology and personalized medicine, have …

Genomic analysis in the age of human genome sequencing

T Lappalainen, AJ Scott, M Brandt, IM Hall - Cell, 2019 - cell.com
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …