The combo of #EHR deep phenotyping and exome sequencing to make the diagnosis cell.com/ajhg/fulltext/… AJHG ASHG Cell Press Columbia University Columbia Science Children's Hospital

The EHR-Phenolyzer Looks to Speed Genetic Diagnoses | Data Science Institute datascience.columbia.edu/ehr-phenolyzer…

iCAGES: integrated CAncer GEnome Score for comprehensively prioritizing driver genes in personal cancer genomes. genomemedicine.biomedcentral.com/articles/10.11…

Our iCAGES (integrated CAncer GEnome Score) paper is published online now: genomemedicine.com/content/8/1/135!

New Precision Medicine Tool Helps Optimize Cancer Treatment - Columbia University Medical Center newsroom.cumc.columbia.edu/blog/2016/12/2… via @columbiamed

Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines: The #intervar paper is online now: cell.com/ajhg/fulltext/….

Postdoctoral Position in Computational Genomics genomeweb.com/resources/jobs…

Congrats to Gholson Lyon David Mittelman Kai Wang et al for this new paper on the challenges of WGS & genomic medicine rdcu.be/px75

Our paper on RepeatHMM (repeat estimation from long-read sequencing) was online now genomemedicine.biomedcentral.com/articles/10.11… #genomemedicine

Updated! NextSV: a computational pipeline for structural variation analysis from low-coverage long-read sequencing biorxiv.org/content/early/…