Author
University of California, San Francisco
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
4 papers
Recent·Most cited
Joseph T.C. Shieh, Monica Penon‐Portmann, Karen H. Y. Wong…·Dario Boffelli
This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.
Sanjit Singh Batra, Michal Levy‐Sakin, Jacqueline A. Robinson…·Jeffrey D. Wall
This paper presents a de novo genome assembly of the olive baboon using long-read and Hi-C data, significantly improving contig size and chromosome scaffolding compared to the previous reference genome.
Saurabh Belsare, Michal Levy‐Sakin, Yulia Mostovoy…·Jeffrey D. Wall
The paper assesses the quality of the 1000 Genomes Project data by comparing phased haplotypes with experimental data and finds that rare variant phasing and imputation are unreliable due to limited sample size.
Tslil Gabrieli, Hila Sharim, Gil Nifker…·Yuval Ebenstein
This paper introduces a long-read optical mapping technology to profile 5-hydroxymethylcytosine (5-hmC) across the genome, revealing long-range epigenetic correlations and cell-to-cell variation.