Sara A. Carioscia

A complete diploid human genome benchmark for personalized genomics

T2T-HG002v1.1, a complete diploid HG002 assembly lacking detectable errors over 99.4% of its length, enables genome-based benchmarking of assemblies, sequencing reads, and phased variant calls.

Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos

The paper estimates rates of meiotic and mitotic errors in human embryos using simulation and approximate Bayesian computation, finding high levels of chromosomal mosaicism.

Common variation in meiosis genes shapes human recombination phenotypes and aneuploidy risk

The paper identifies genetic variants in meiosis genes associated with recombination phenotypes and aneuploidy risk using preimplantation genetic testing data.

Strict adherence to Mendel's First Law across a large sample of human sperm genomes

The paper analyzes human sperm genomes to test for transmission distortion, finding no evidence of weak TD and introducing a new method for low-coverage data.