4.5 Article

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Accurately annotate compound effects of genetic variants using a context-sensitive framework

Si-Jin Cheng et al.

NUCLEIC ACIDS RESEARCH (2017)

Review Genetics & Heredity

Opportunities and challenges of whole-genome and -exome sequencing

Britt-Sabina Petersen et al.

BMC GENETICS (2017)

Article Genetics & Heredity

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1

Zachry T. Soens et al.

GENETICS IN MEDICINE (2016)

Article Biochemistry & Molecular Biology

The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences

Cheng Xue et al.

GENOME RESEARCH (2016)

Review Genetics & Heredity

Novel bioinformatic developments for exome sequencing

Stefan H. Lelieveld et al.

HUMAN GENETICS (2016)

Article Genetics & Heredity

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

Koichiro Higasa et al.

JOURNAL OF HUMAN GENETICS (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Biotechnology & Applied Microbiology

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

Isabella Bernardis et al.

BIOMED RESEARCH INTERNATIONAL (2016)

Article Biotechnology & Applied Microbiology

The Ensembl Variant Effect Predictor

William McLaren et al.

GENOME BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences

Alexander B. Rosenberg et al.

Article Biochemistry & Molecular Biology

Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness

Alejandro Garanto et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2015)

Article Multidisciplinary Sciences

The UK10K project identifies rare variants in health and disease

Klaudia Walter et al.

NATURE (2015)

Article Multidisciplinary Sciences

Effect of predicted protein-truncating genetic variants on the human transcriptome

Manuel A. Rivas et al.

SCIENCE (2015)

Article Multidisciplinary Sciences

VaRank: a simple and powerful tool for ranking genetic variants

Veronique Geoffroy et al.

PEERJ (2015)

Article Multidisciplinary Sciences

The human splicing code reveals new insights into the genetic determinants of disease

Hui Y. Xiong et al.

SCIENCE (2015)

Article Ophthalmology

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort

Hui Wang et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)

Review Genetics & Heredity

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

Xueqiu Jian et al.

GENETICS IN MEDICINE (2014)

Article Biochemistry & Molecular Biology

In silico prediction of splice-altering single nucleotide variants in the human genome

Xueqiu Jian et al.

NUCLEIC ACIDS RESEARCH (2014)

Review Genetics & Heredity

Exposing synonymous mutations

Ryan C. Hunt et al.

TRENDS IN GENETICS (2014)

Article Biotechnology & Applied Microbiology

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

Matthew Mort et al.

GENOME BIOLOGY (2014)

Article Genetics & Heredity

Next-Generation Genetic Testing for Retinitis Pigmentosa

Kornelia Neveling et al.

HUMAN MUTATION (2012)

Article Biochemistry & Molecular Biology

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

SG Jacobson et al.

HUMAN MOLECULAR GENETICS (2003)