Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and
can be life-threatening. Although molecularly targeted therapies can be life-saving …

Methods to reconstruct the mitochondrial DNA (mtDNA) sequence using short-read
sequencing come with an inherent bias due to amplification and mapping. They can fail to …

Deep sequencing genomic analysis is becoming increasingly common in clinical research
and practice, enabling accurate identification of diagnostic, prognostic, and predictive …

Uterine leiomyosarcomas (uLMS) are aggressive tumors arising from the smooth muscle
layer of the uterus. We analyzed 83 uLMS sample genetics, including 56 from Yale and 27 …

Almost all haplotype-based variant callers were designed specifically for detecting common
germline variation in diploid populations, and give suboptimal results in other scenarios …

Carbapenem resistance is a major concern in the management of antibiotic-resistant
Pseudomonas aeruginosa infections. The direct prediction of carbapenem-resistant …

Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is a high-risk
subtype of B-ALL often associated with genetic variants that alter cytokine receptor …

Angiosarcoma (AS) is a highly aggressive tumor of blood and lymphatic vessels in humans
that carries a poor prognosis. The rarity of AS, together with its heterogeneous nature, and …

Lymphatic malformations (LMs) are congenital, nonneoplastic vascular malformations
associated with postzygotic activating PIK3CA mutations. The mutation spectrum within LMs …