Author

Morten Kallberg

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

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Aaron L Halpern· 1 shared Benjamin L Moore· 1 shared David R Bentley· 1 shared Elliott H Margulies· 1 shared Epameinondas Fritzilas· 1 shared Gil McVeaniD· 1 shared Han-Yu Chuang· 1 shared Michael A Eberle· 1 shared

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2016-2016 · peak 1/yr

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1 shared paperBioinformatics

Aaron L Halpern

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1 paper

Recent·Most cited

BioinformaticsbioRxivAug 2, 2016

A reference dataset of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

Michael A Eberle, Epameinondas Fritzilas, Peter Krusche…·David R Bentley

The paper generates a high-confidence variant catalogue from whole-genome sequencing of a three-generation pedigree, validated by haplotype transmission and showing improved accuracy over existing benchmarks.

DOI 10.1101/gr.210500.116

humanwhole-genome sequencing

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