Concepedia

Taking the next step forward – Diagnosing inherited infantile cholestatic disorders with next generation sequencing

Saskia M. Herbst, S. Schirmer, Carsten Posovszky, Frank Jochum, Thomas Rödl, Josef Schroeder, Thomas F.E. Barth, Ute Hehr, Michael Melter, Jan Vermehren

Molecular and Cellular Probes · 2015 · 38 citations · 20 references

DOI

Concepts

References

20

Base-Calling of Automated Sequencer Traces Using<i>Phred.</i> I. Accuracy Assessment

Brent Ewing, LaDeana Hillier, Michael C. Wendl et al. · Genome Research · 1998 · 7K citations · Full text

, , +16

Base-Calling of Automated Sequencer Traces Using <i>Phred.</i> II. Error Probabilities

Brent Ewing, Phil Green · Genome Research · 1998 · 5.5K citations · Full text

, , +9

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 930 citations · Full text

, , +14

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Sharon E. Plon, Douglas F. Easton, William D. Foulkes et al. · Human Mutation · 2008 · 913 citations · Full text

, , +17

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Ellen Windelen et al. · Kidney International · 2005 · 348 citations · Full text

, , +14