4.7 Article

Reducing the search space for causal genetic variants with VASP

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

Daniel C. Koboldt et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Genetics & Heredity

Comprehensive variation discovery in single human genomes

Neil I. Weisenfeld et al.

NATURE GENETICS (2014)

Article Medicine, General & Internal

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Multidisciplinary Sciences

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Tom Kamphans et al.

PLOS ONE (2013)

Article Biochemistry & Molecular Biology

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

Miao-Xin Li et al.

NUCLEIC ACIDS RESEARCH (2012)

Article Biochemical Research Methods

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

William McLaren et al.

BIOINFORMATICS (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Genetics & Heredity

Exome sequencing identifies the cause of a mendelian disorder

Sarah B. Ng et al.

NATURE GENETICS (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)