Search Results - "Berger, Mark J"
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M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Published in Nature genetics (01-12-2016)“…Gill Bejerano and colleagues present M-CAP, a classifier that estimates variant pathogenicity in clinical exome data sets. They show that M-CAP outperforms…”
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Single-cell transcriptional diversity is a hallmark of developmental potential
Published in Science (American Association for the Advancement of Science) (24-01-2020)“…Single-cell RNA sequencing (scRNA-seq) is a powerful approach for reconstructing cellular differentiation trajectories. However, inferring both the state and…”
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Independent erosion of conserved transcription factor binding sites points to shared hindlimb, vision and external testes loss in different mammals
Published in Nucleic acids research (12-10-2018)“…Abstract Genetic variation in cis-regulatory elements is thought to be a major driving force in morphological and physiological changes. However, identifying…”
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Allele-specific expression reveals genetic drivers of tissue regeneration in mice
Published in Cell stem cell (05-10-2023)“…In adult mammals, skin wounds typically heal by scarring rather than through regeneration. In contrast, “super-healer” Murphy Roths Large (MRL) mice have the…”
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Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets
Published in Database : the journal of biological databases and curation (2020)“…Abstract Publicly available genetic databases promote data sharing and fuel scientific discoveries for the prevention, treatment and management of disease. In…”
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