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Publications

Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.

Georgeson P, Steinfelder RS, Harrison TA, et al. Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.10.23287127

Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics.

Williams CM, Poore H, Tanksley PT, et al. Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.21.533641

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.

Singer-Berk M, Gudmundsson S, Baxter S, et al. Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.08.23286955

RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell DJ, Merens HE, Fiorini C, et al. RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.03.23286760

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker LC, de la Hoya M, Wiggins GAR, et al. APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.02.24.23286431

Comparative landscape of genetic dependencies in human and chimpanzee stem cells.

She R, Fair T, Schaefer NK, et al. Comparative landscape of genetic dependencies in human and chimpanzee stem cells. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.19.533346

A single-cell map of antisense oligonucleotide activity in the brain.

Mortberg MA, Gentile JE, Nadaf N, et al. A single-cell map of antisense oligonucleotide activity in the brain. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.02.14.528473

Engineered probiotics limit CNS autoimmunity by stabilizing HIF-1α in dendritic cells.

Sanmarco LM, Rone JM, Polonio CM, et al. Engineered probiotics limit CNS autoimmunity by stabilizing HIF-1α in dendritic cells. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.17.532101

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Roht L, Hyldebrandt HK, Stormorken AT, et al. AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature. Molecular genetics & genomic medicine. 2023:e2157. doi:10.1002/mgg3.2157

Overcoming barriers to tumor genomic profiling through direct-to-patient outreach.

Doe-Tetteh SA, Camp SY, Reales D, et al. Overcoming barriers to tumor genomic profiling through direct-to-patient outreach. Clinical cancer research : an official journal of the American Association for Cancer Research. 2023. doi:10.1158/1078-0432.CCR-22-3247