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List of works by Jonathan M Mudge

Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

scientific article published on 18 June 2015

Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation

scientific article

Current status and new features of the Consensus Coding Sequence database

scientific article

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

scientific article

Dynamic instability of the major urinary protein gene family revealed by genomic and phenotypic comparisons between C57 and 129 strain mice

scientific article published in 2008

Ensembl 2018.

scientific article published on 16 November 2017

Ensembl 2019

scientific article published on 01 January 2019

Ensembl 2020

scientific article published on 01 January 2020

Ensembl 2021

scientific article published on 02 November 2020

Ensembl 2022

scientific article published on 19 October 2021

Evidence for transcript networks composed of chimeric RNAs in human cells

scientific article

Evolutionary implications of pericentromeric gene expression in humans

scientific article published on 01 January 2005

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).

scientific article

Flexible Data Analysis Pipeline for High-Confidence Proteogenomics

scientific article

Functional transcriptomics in the post-ENCODE era

scientific article published on 30 October 2013

GENCODE reference annotation for the human and mouse genomes

scientific article published on 01 January 2019

Genomic anatomy of the Tyrp1 (brown) deletion complex

scholarly article

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p

scientific article

Improving GENCODE reference gene annotation using a high-stringency proteogenomics workflow

scientific article

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

scientific article published on 02 December 2019

The GENCODE human gene set

scientific article

The Vertebrate Genome Annotation browser 10 years on

scientific article

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

scientific article

The importance of identifying alternative splicing in vertebrate genome annotation

scientific article

The origins, evolution, and functional potential of alternative splicing in vertebrates

scientific article

The state of play in higher eukaryote gene annotation

scientific article

Thousands of human non-AUG extended proteoforms lack evidence of evolutionary selection among mammals

scientific article published in 2022

Transcript expression-aware annotation improves rare variant interpretation

scientific article published on 27 May 2020

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