While the cost of whole genome sequencing (WGS) is approaching the realm of routine
medical tests, it remains too tardy to help guide the management of many acute medical …

The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …

Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines
and develop variant calling and sequencing methods. Here we use accurate linked and …

In the preimplantation mouse embryo, TEAD4 is critical to establishing the trophectoderm (TE)-specific
transcriptional program and segregating TE from the inner cell mass (ICM). …

Hepatocyte nuclear factor 4 alpha (HNF4α), the master regulator of hepatocyte
differentiation, has been recently shown to inhibit hepatocyte proliferation by way of unknown …

Background Sepsis, a leading cause of morbidity and mortality, is not a homogeneous disease
but rather a syndrome encompassing many heterogeneous pathophysiologies. Patient …

For the detection of somatic structural variation (SV) in cancer genomes, long-read sequencing
is advantageous over short-read sequencing with respect to mappability and variant …

Most human genomes are characterized by aligning individual reads to the reference genome,
but accurate long reads and linked reads now enable us to construct accurate, phased …

Long-read HiFi genome sequencing allows for accurate detection and direct phasing of
single nucleotide variants, indels, and structural variants. Recent algorithmic development …

Purpose: Treatment failure from drug resistance is the primary reason for relapse in acute
lymphoblastic leukemia (ALL). Improving outcomes by targeting mechanisms of drug …