GREAT improves functional interpretation of cis-regulatory regions
We developed the Genomic Regions Enrichment of Annotations Tool (GREAT) to analyze
the functional significance of cis-regulatory regions identified by localized measurements of …
the functional significance of cis-regulatory regions identified by localized measurements of …
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing (…
or less-accurate long reads. We report the optimization of circular consensus sequencing (…
Variant review with the integrative genomics viewer
JT Robinson, H Thorvaldsdóttir, AM Wenger, A Zehir… - Cancer research, 2017 - AACR
… AM Wenger is an employee and shareholder of Pacific Biosciences, a company commercializing
DNA sequencing technologies. No potential conflicts of interest were disclosed by the …
DNA sequencing technologies. No potential conflicts of interest were disclosed by the …
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 …
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
…, X Kong, F Hormozdiari, D Lee, AM Wenger… - Nature …, 2019 - nature.com
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
data limits studies of human genetic diversity and disease association. Here, we apply a suite …
The complete sequence of a human Y chromosome
…, AC Watwood, MH Weissensteiner, AM Wenger… - Nature, 2023 - nature.com
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …
because of its complex repeat structure that includes long palindromes, tandem repeats and …
A robust benchmark for detection of germline large deletions and insertions
New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
Human-specific loss of regulatory DNA and the evolution of human-specific traits
Humans differ from other animals in many aspects of anatomy, physiology, and behaviour;
however, the genotypic basis of most human-specific traits remains unknown 1 . Recent whole…
however, the genotypic basis of most human-specific traits remains unknown 1 . Recent whole…
[HTML][HTML] Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
AM Wenger, H Guturu, JA Bernstein, G Bejerano - Genetics in Medicine, 2017 - Elsevier
Purpose Clinical exome sequencing is nondiagnostic for about 75% of patients evaluated
for a possible Mendelian disorder. We examined the ability of systematic reevaluation of …
for a possible Mendelian disorder. We examined the ability of systematic reevaluation of …