Konrad Karczewski
Massachusetts General Hospital
35 papers found
Refreshing results…
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Download from www.nature.comUsing high-resolution variant frequencies to empower clinical genome interpretation
Download from www.nature.comHealth and population effects of rare gene knockouts in adult humans with related parents
Download from science.sciencemag.orgDe novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Download from hdl.handle.netEfficient genotype compression and analysis of large genetic-variation data sets
Download from nrs.harvard.eduImproved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Download from www.nature.comThe UK10K project identifies rare variants in health and disease
Download from www.nature.comTranscriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants
Download from doi.orgGenetic variant in folate homeostasis is associated with lower warfarin dose in African Americans
Download from ashpublications.orgSTORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud
Download from dx.doi.orgA New System for Comparative Functional Genomics of Saccharomyces Yeasts
Download from academic.oup.comPathway analysis of genome-wide data improves warfarin dose prediction
Download from doi.orgSystematic functional regulatory assessment of disease-associated variants
Download from www.pnas.orgPerformance of genomic medicine
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