相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。An improved pig reference genome sequence to enable pig genetics and genomics research
Amanda Warr et al.
GIGASCIENCE (2020)
fastp: an ultra-fast all-in-one FASTQ preprocessor
Shifu Chen et al.
BIOINFORMATICS (2018)
A One-Penny Imputed Genome from Next-Generation Reference Panels
Brian L. Browning et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Mosdepth: quick coverage calculation for genomes and exomes
Brent S. Pedersen et al.
BIOINFORMATICS (2018)
A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
Hubert Pausch et al.
BMC GENETICS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Sambamba: fast processing of NGS alignment formats
Artem Tarasov et al.
BIOINFORMATICS (2015)
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher C. Chang et al.
GIGASCIENCE (2015)
A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle
Simone Jung et al.
BMC GENOMICS (2014)
In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle
Heli Venhoranta et al.
BMC GENOMICS (2014)
Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling
Long Cheng et al.
NEURON (2014)
CFEOM1-Associated Kinesin KIF21A Is a Cortical Microtubule Growth Inhibitor
Babet van der Vaart et al.
DEVELOPMENTAL CELL (2013)
DELLY: structural variant discovery by integrated paired-end and split-read analysis
Tobias Rausch et al.
BIOINFORMATICS (2012)
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
Jigar Desai et al.
GENE EXPRESSION PATTERNS (2012)
Porcine arthrogryposis multiplex congenita (AMC): New diagnostic test and narrowed candidate region
Monika Haubitz et al.
MOLECULAR AND CELLULAR PROBES (2012)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease
Christopher A. Walsh et al.
NEURON (2010)
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
Kai Ye et al.
BIOINFORMATICS (2009)
COBALT: constraint-based alignment tool for multiple protein sequences
Jason S. Papadopoulos et al.
BIOINFORMATICS (2007)
Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to chromosome 5 by linkage analysis
S Genini et al.
MAMMALIAN GENOME (2004)
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
K Yamada et al.
NATURE GENETICS (2003)