ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson

Nucleic Acids Research

GeneticsGenomicsGenetic MedicineClinical GeneticsAnnotation Databases +20

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin, +15

Nature Genetics

Dna SequencingSequencingMedicineGeneticsComputational Genomics +12

Complete sequencing and characterization of 21,243 full-length human cDNAs

Toshio Ota, Yutaka Suzuki, Tetsuo Nishikawa, +154

Nature Genetics

Dna SequencingNatural SciencesSequence AnalysisDna ReplicationMolecular Biology +5

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

Darrel Waggoner, Neil R.M. Buist, George N. Donnell

Journal of Inherited Metabolic Disease

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, +29

Genome Research

Human genetic variation database, a reference database of genetic variations in the Japanese population

Koichiro Higasa, Noriko Miyake, Jun Yoshimura, +28

Journal of Human Genetics

The human galactose-1-phosphate uridyltransferase gene

Nancy D. Leslie, Elisa B. Immerman, James E. Flach, +3

Genomics

BiosynthesisCellular EnzymologyGeneticsGlycobiologyBiochemical Genetics +3

Neonatal presentation of adult-onset type II citrullinemia

Toshihiro Ohura, Keiko Kobayashi, Yusaku Tazawa, +5

Human Genetics

Neonatal PresentationNeonatologyPaediatric MedicinePediatrics

Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants

Maiko Narahara, Koichiro Higasa, Seiji Nakamura, +6

PLoS ONE

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

Yusaku Tazawa, Keiko Kobayashi, Toshihiro Ohura, +9

The Journal of Pediatrics

Biliary DisorderPediatricsInfantile Cholestatic JaundiceBiliary Tract