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Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 ;.
. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. . The CARD8 inflammasome dictates HIV/SIV pathogenesis and disease progression. Cell. 2024 ;187(5):1223-1237.e16.
. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;.
. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Hum Mol Genet. 2024 ;.
. 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 ;.
. Dietary Folate and Cofactors Accelerate Age-dependent p16 Epimutation to Promote Intestinal Tumorigenesis. Cancer Res Commun. 2024 ;4(1):164-169.
. Empowering personalized pharmacogenomics with generative AI solutions. J Am Med Inform Assoc. 2024 ;.
. 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 Variation Between Small Bowel and Colon-Predominant Crohn Disease. Cell Mol Gastroenterol Hepatol. 2024 ;.
. Genomic data in the All of Us Research Program. Nature. 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.
. 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.
. Inhibition of CSF1R and KIT with pexidartinib reduces inflammatory signaling and cell viability in endometriosis. Endocrinology. 2024 ;.
. Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance. Virus Evol. 2024 ;10(1):vead086.
. Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration. Genet Med. 2024 ;:101106.
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