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Research

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

  • First Published June 21, 2019
Research

Pathogenicity and selective constraint on variation near splice sites

  • First Published December 26, 2018
Method

Detection of structural mosaicism from targeted and whole-genome sequencing data

  • First Published August 30, 2017
Resource

lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines" > A lacZ reporter gene expression atlas for 313 adult KOMP mutant mouse lines

  • First Published January 15, 2015
Method

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

  • First Published December 19, 2013
Resource

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

  • First Published August 14, 2012
Research

Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration

  • First Published July 27, 2011
Method

Genome-wide identification of conserved regulatory function in diverged sequences

  • First Published May 31, 2011
Research

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

  • First Published March 22, 2010
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