CHOP
Inocras, CHOP's D3b Ink Research Partnership for Sinonasal Cancer
Inocras will perform whole-genome sequencing and bioinformatic analysis on 30 sinonasal mucosal melanoma cases provided by D3b, including tumor and germline samples.
Childhood Acute Lymphoblastic Leukemia Subtypes, Prognostic Features Uncovered in Genomic Study
Researchers identified 15 subtypes of T-lineage ALL, along with mutation, expression, and regulatory shifts providing development and prognostic clues.
The method, designed for nanopore sequencing but compatible with other methods, could reduce the cost of studying RNA isoforms and splicing.
The centerpiece of the new features is Ready2Run, a collection of public and private genome analysis and interpretation pipelines that can be accessed through a single API call.
ACMG Issues Updated Practice Guidelines for Hearing Loss Evaluations
The update provides recommendations on how to approach genetic testing for individuals suspected of having syndromic or nonsyndromic hearing loss.