mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Item
http://www.wikidata.org/entity/Q41571023
Trio-based exome sequencing arrests de novo mutations in early-onset high myopiaIdentification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome SequencingTargeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Vitamin D-related genes are subjected to significant de novo mutation burdens in autism spectrum disorder.Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
P2860

mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Item
http://www.wikidata.org/entity/Q41571023
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
mirTrios: an integrated pipeli ...... ed next-generation sequencing.
@en
type
label
mirTrios: an integrated pipeli ...... ed next-generation sequencing.
@en
prefLabel
mirTrios: an integrated pipeli ...... ed next-generation sequencing.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
mirTrios: an integrated pipeli ...... ed next-generation sequencing.
@en
P2093
P2860
P304
P31
P356
10.1136/JMEDGENET-2014-102656
P407
P433
P478
P50
P577
P5875
P698