Publications
A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).
. Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv. 2024 ;.
. Comprehensive single-cell atlas of the mouse retina. bioRxiv. 2024 ;.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. Dietary Folate and Cofactors Accelerate Age-dependent p16 Epimutation to Promote Intestinal Tumorigenesis. Cancer Res Commun. 2024 ;4(1):164-169.
. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 ;.
. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.
. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Genetic Variation Between Small Bowel and Colon-Predominant Crohn Disease. Cell Mol Gastroenterol Hepatol. 2024 ;.
. Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes. Cell Rep Med. 2024 ;:101446.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 ;21(1):41-49.
. Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree. Nat Biotechnol. 2024 ;42(1):139-147.
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