Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

(2015) Nazneen Aziz et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4

(2015) Alison Millson et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Comprehensive Diagnostic Testing for Stereocilin

(2014) Diana Mandelker et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

BEDOPS: high-performance genomic feature operations

(2012) Shane Neph et al.   BIOINFORMATICS

A Novel Long-Range PCR Sequencing Method for Genetic Analysis of the Entire PKD1 Gene

(2012) Ying-Cai Tan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

The GENCODE pseudogene resource

(2012) Baikang Pei et al.   GENOME BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Pseudofam: the pseudogene families database

(2008) Hugo Y. K. Lam et al.   NUCLEIC ACIDS RESEARCH