88[ ![ License] ( https://img.shields.io/badge/License-MIT-black.svg )] ( https://github.com/yangao07/longcallD/blob/main/LICENSE )
99<!-- [](https://dx.doi.org/10.1093/bioinformatics/btaa963) -->
1010<!-- [](https://github.com/yangao07/longcallD/issues) -->
11- ## Updates (pre-release v0.0.4)
1211
13- * Use static regions for multi-thread computing
14- * Extended phase set
15- * Fixed HP/PS tags in output phased bam
16- * Fixed a few edge cases
12+ ## Updates (pre-release v0.0.5)
13+
14+ * Fix a SegFault in ONT mode regarding BAM/SA tag
15+ * Significant speed improvement (compiling mistake in last release)
16+ * Add --refine-aln: refine read alignment based on MSA in output BAM/CRAM
17+ * Add -Oz for compressed VCF output
18+ * Add -s/--somatic to output somatic/mosaic variant
19+ * Add --exclude-ctg & --all-ctg; --autosome-XY is default now
20+ * Add -T/--trans-elem; output TE (transposable/mobile element, Alu/L1/SVA) information for INS/DEL
21+ * Add INFO: TSD ;REPNAME in VCF for TE INS/DEL
22+ <!-- * Add INFO:TANDAM in VCF for tandem duplications -->
23+ * Fix lower case ref base
24+ * Fix compiling in macOS-x64
25+
1726
1827## Getting Started
1928``` sh
2029# Download pre-built executables and test data (recommended)
2130# Linux-x64
22- wget https://github.com/yangao07/longcallD/releases/download/v0.0.4 /longcallD-v0.0.4_x64 -linux.tar.gz
23- tar -zxvf longcallD-v0.0.4_x64 -linux.tar.gz && cd longcallD-v0.0.4_x64 -linux
31+ wget https://github.com/yangao07/longcallD/releases/download/v0.0.5 /longcallD-v0.0.5_x64 -linux.tar.gz
32+ tar -zxvf longcallD-v0.0.5_x64 -linux.tar.gz && cd longcallD-v0.0.5_x64 -linux
2433# MacOS-arm64
25- wget https://github.com/yangao07/longcallD/releases/download/v0.0.4 /longcallD-v0.0.4_arm64 -macos.tar.gz
26- tar -zxvf longcallD-v0.0.4_arm64 -macos.tar.gz && cd longcallD-v0.0.4_arm64 -macos
34+ wget https://github.com/yangao07/longcallD/releases/download/v0.0.5 /longcallD-v0.0.5_arm64 -macos.tar.gz
35+ tar -zxvf longcallD-v0.0.5_arm64 -macos.tar.gz && cd longcallD-v0.0.5_arm64 -macos
2736
2837# PacBio HiFi reads
2938./longcallD call ./test_data/chr11_2M.fa ./test_data/HG002_chr11_hifi_test.bam --hifi > HG002_hifi_test.vcf
@@ -35,7 +44,7 @@ man ./longcallD.1
3544``` -->
3645
3746## Table of Contents
38- - [ Updates (pre-release v0.0.4 )] ( #updates-pre-release-v004 )
47+ - [ Updates (pre-release v0.0.5 )] ( #updates-pre-release-v005 )
3948- [ Getting Started] ( #getting-started )
4049- [ Table of Contents] ( #table-of-contents )
4150- [ Introduction] ( #introduction )
@@ -44,7 +53,7 @@ man ./longcallD.1
4453 - [ Bioconda] ( #bioconda )
4554 - [ Build from source] ( #build-from-source )
4655- [ Usage] ( #usage )
47- - [ Variant calling with HiFi/Nanopore long reads] ( #variant-calling-with-hifinanopore-long-reads )
56+ - [ Variant calling with PacBio HiFi/Nanopore long reads] ( #variant-calling-with-pacbio -hifinanopore-long-reads )
4857 - [ Region-specific variant calling] ( #region-specific-variant-calling )
4958 - [ Variant calling and output phased long reads] ( #variant-calling-and-output-phased-long-reads )
5059 - [ Variant calling from remote files] ( #variant-calling-from-remote-files )
@@ -62,13 +71,13 @@ LongcallD phases long reads into haplotypes using SNPs and small indels before c
6271### Pre-built executables (recommended)
6372** Linux-x64**
6473```
65- wget https://github.com/yangao07/longcallD/releases/download/v0.0.4 /longcallD-v0.0.4_x64 -linux.tar.gz
66- tar -zxvf longcallD-v0.0.4_x64 -linux.tar.gz
74+ wget https://github.com/yangao07/longcallD/releases/download/v0.0.5 /longcallD-v0.0.5_x64 -linux.tar.gz
75+ tar -zxvf longcallD-v0.0.5_x64 -linux.tar.gz
6776```
6877** MacOS-arm64**
6978```
70- wget https://github.com/yangao07/longcallD/releases/download/v0.0.4 /longcallD-v0.0.4_arm64 -macos.tar.gz
71- tar -zxvf longcallD-v0.0.4_arm64 -macos.tar.gz
79+ wget https://github.com/yangao07/longcallD/releases/download/v0.0.5 /longcallD-v0.0.5_arm64 -macos.tar.gz
80+ tar -zxvf longcallD-v0.0.5_arm64 -macos.tar.gz
7281```
7382
7483** Linux-arm64/macOS-x64**
@@ -85,14 +94,14 @@ conda install -c bioconda longcalld
8594To compile longcallD from source, ensure you have ** GCC/clang(9.0+)** and ** zlib/libbz2/liblzma/libcurl** (for htslib) installed.
8695It is recommended to use the [ latest release] ( https://github.com/yangao07/longcallD/releases ) .
8796```
88- wget https://github.com/yangao07/longcallD/releases/download/v0.0.4 /longcallD-v0.0.4 .tar.gz
89- tar -zxvf longcallD-v0.0.4 .tar.gz
90- cd longcallD-v0.0.4 ; make
97+ wget https://github.com/yangao07/longcallD/releases/download/v0.0.5 /longcallD-v0.0.5 .tar.gz
98+ tar -zxvf longcallD-v0.0.5 .tar.gz
99+ cd longcallD-v0.0.5 ; make
91100```
92101
93102## Usage
94103LongcallD requires a ** reference genome (FASTA)** and a ** long-read BAM/CRAM** file as inputs. It outputs ** phased variant calls in VCF format** .
95- ### Variant calling with HiFi/Nanopore long reads
104+ ### Variant calling with PacBio HiFi/Nanopore long reads
96105```
97106longcallD call -t16 ref.fa hifi.bam > hifi.vcf # default for PacBio HiFi reads (--hifi)
98107longcallD call -t16 ref.fa ont.bam --ont > ont.vcf # for ONT reads
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