PMID- 38458603
OWN - NLM
STAT- Publisher
LR  - 20240319
IS  - 1089-8638 (Electronic)
IS  - 0022-2836 (Linking)
DP  - 2024 Mar 6
TI  - MVAR: A Mouse Variation Registry.
PG  - 168518
LID - S0022-2836(24)00105-0 [pii]
LID - 10.1016/j.jmb.2024.168518 [doi]
AB  - The Mouse Variation Registry (MVAR) resource is a scalable registry of mouse 
      single nucleotide variants and small indels and variant annotation. The resource 
      accepts data in standard Variant Call Format (VCF) and assesses the uniqueness of 
      the submitted variants via a canonicalization process. Novel variants are 
      assigned a unique, persistent MVAR identifier; variants that are equivalent to an 
      existing variant in the resource are associated with the existing identifier. 
      Annotations for variant type, molecular consequence, impact, and genomic region 
      in the context of specific transcripts and protein sequences are generated using 
      Ensembl's Variant Effect Predictor (VEP) and Jannovar. Access to the data and 
      annotations in MVAR are supported via an Application Programming Interface (API) 
      and web application. Researchers can search the resource by gene symbol, genomic 
      region, variant (expressed in Human Genome Variation Society syntax), refSNP 
      identifiers, or MVAR identifiers. Tabular search results can be filtered by 
      variant annotations (variant type, molecular consequence, impact, variant region) 
      and viewed according to variant distribution across mouse strains. The registry 
      currently comprises more than 99 million canonical single nucleotide variants for 
      581 strains of mice. MVAR is accessible from https://mvar.jax.org.
CI  - Copyright (c) 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.
FAU - El Kassaby, Baha
AU  - El Kassaby B
AD  - The Jackson Laboratory, Bar Harbor, ME, USA.
FAU - Castellanos, Francisco
AU  - Castellanos F
AD  - The Jackson Laboratory, Bar Harbor, ME, USA.
FAU - Gerring, Matthew
AU  - Gerring M
AD  - The Jackson Laboratory, Bar Harbor, ME, USA.
FAU - Kunde-Ramamoorthy, Govindarajan
AU  - Kunde-Ramamoorthy G
AD  - The Jackson Laboratory, Bar Harbor, ME, USA.
FAU - Bult, Carol J
AU  - Bult CJ
AD  - The Jackson Laboratory, Bar Harbor, ME, USA. Electronic address: 
      carol.bult@jax.org.
LA  - eng
PT  - Journal Article
DEP - 20240306
PL  - Netherlands
TA  - J Mol Biol
JT  - Journal of molecular biology
JID - 2985088R
SB  - IM
OTO - NOTNLM
OT  - Mouse genome variation
OT  - canonicalization
OT  - relational database
OT  - short genetic variants
OT  - variant annotation
COIS- Declaration of competing interest The authors declare that they have no known 
      competing financial interests or personal relationships that could have appeared 
      to influence the work reported in this paper.
EDAT- 2024/03/09 10:42
MHDA- 2024/03/09 10:42
CRDT- 2024/03/08 19:19
PHST- 2024/01/31 00:00 [received]
PHST- 2024/03/01 00:00 [accepted]
PHST- 2024/03/09 10:42 [pubmed]
PHST- 2024/03/09 10:42 [medline]
PHST- 2024/03/08 19:19 [entrez]
AID - S0022-2836(24)00105-0 [pii]
AID - 10.1016/j.jmb.2024.168518 [doi]
PST - aheadofprint
SO  - J Mol Biol. 2024 Mar 6:168518. doi: 10.1016/j.jmb.2024.168518.