Lauren Harmon
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View article: Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia Open
Causal germline genetic variants are frequently detected in young (under age 40) patients presenting with myelodysplastic syndromes (MDS) or bone marrow failure (BMF), where progression to acute myeloid leukemia (AML) contributes substanti…
View article: Ramp Sequence May Explain Synonymous Variant Association with Alzheimer’s Disease in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA)
Ramp Sequence May Explain Synonymous Variant Association with Alzheimer’s Disease in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA) Open
Background: The synonymous variant NC_000007.14:g.100373690T>C (rs2405442:T>C) in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA) gene was previously associated with decreased risk for Alzheimer’s disease (AD) in genome-wide a…
View article: <i>bamSliceR</i> : a Bioconductor package for rapid, cross-cohort variant and allelic bias analysis
<i>bamSliceR</i> : a Bioconductor package for rapid, cross-cohort variant and allelic bias analysis Open
Motivation The National Cancer Institute Genomic Data Commons (GDC) provides controlled access to sequencing data from thousands of subjects, enabling large-scale study of impactful genetic alterations such as simple and complex germline a…
View article: Structural variants involving <i>MLLT10</i> fusion are associated with adverse outcomes in pediatric acute myeloid leukemia
Structural variants involving <i>MLLT10</i> fusion are associated with adverse outcomes in pediatric acute myeloid leukemia Open
MLLT10 gene rearrangements with KMT2A occur in pediatric acute myeloid leukemia (AML) and confer poor prognosis, but the prognostic impact of MLLT10 in partnership with other genes is unknown. We conducted a retrospective study with 2080 c…
View article: <i>bamSliceR</i>: a Bioconductor package for rapid, cross-cohort variant and allelic bias analysis
<i>bamSliceR</i>: a Bioconductor package for rapid, cross-cohort variant and allelic bias analysis Open
The NCI Genomic Data Commons (GDC) provides controlled access to sequencing data from thousands of subjects, enabling large-scale study of impactful genetic alterations such as simple and complex germline and structural variants. However, …
View article: Comprehensive molecular and clinical characterization of <i>NUP98</i> fusions in pediatric acute myeloid leukemia
Comprehensive molecular and clinical characterization of <i>NUP98</i> fusions in pediatric acute myeloid leukemia Open
NUP98 fusions comprise a family of rare recurrent alterations in AML, associated with adverse outcomes. In order to define the underlying biology and clinical implications of this family of fusions, we performed comprehensive transcriptome…
View article: Sensitive and reproducible cell-free methylome quantification with synthetic spike-in controls
Sensitive and reproducible cell-free methylome quantification with synthetic spike-in controls Open
Cell-free methylated DNA immunoprecipitation sequencing (cfMeDIP-seq) identifies genomic regions with DNA methylation, using a protocol adapted to work with low-input DNA samples and with cell-free DNA (cfDNA). We developed a set of synthe…
View article: Sensitive and reproducible cell-free methylome quantification with synthetic spike-in controls
Sensitive and reproducible cell-free methylome quantification with synthetic spike-in controls Open
Background Cell-free methylated DNA immunoprecipitation-sequencing (cfMeDIP-seq) identifies genomic regions with DNA methylation, using a protocol adapted to work with low-input DNA samples and with cell-free DNA (cfDNA). This method allow…